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1
Litvitskii, P. F., and L. D. Mal'tseva. "PROTEIN, AMINO ACIDS AND NUCLEIC ACIDS METABOLISM DISORDERS." Current pediatrics 14, no. 1 (2015): 95–107. http://dx.doi.org/10.15690/vsp.v14i1.1267.
2
Knerr, Ina, Laurie Bernstein, Ellen Crushell, Siobhan O’Sullivan, and Jörn Oliver Sass. "Amino Acids and Inherited Amino Acid-Related Disorders." Journal of Nutrition and Metabolism 2018 (September 10, 2018): 1–2. http://dx.doi.org/10.1155/2018/5629454.
3
Owayes Muaffaq Hamed, Amjad Abdul-hadi Mohammed, and Raed Salem Alsaffar. "Genetic Metabolism Disorders in Newborn." International Journal for Research in Applied Sciences and Biotechnology 8, no. 1 (January 13, 2021): 77–81. http://dx.doi.org/10.31033/ijrasb.8.1.9.
Abstract:
Babies with any type of metabolic disorders lack the ability to break down the food well, which may induce too little amino acids, phenylalanine and blood sugar to the body, there are numerous kinds of this disorders, most of babies with a genetic metabolic disease have many mutation in gene that coded an enzyme which results a deficiency in same enzyme are hundreds of these disorders and they were diagnosed by their symptoms and the treatment method. The treatment methods of the metabolic disorder depend on the specific type of disorders, inborn metabolic disease are some-time treated with dietary guidance, and other childcare choices, many hereditary metabolic disease are initially caused by gene mutations and that transferred from parents to offspring.
4
Xie, Fei, Zhengqun Liu, Ming Liu, Liang Chen, Wei Ding, and Hongfu Zhang. "Amino Acids Regulate Glycolipid Metabolism and Alter Intestinal Microbial Composition." Current Protein & Peptide Science 21, no. 8 (November 9, 2020): 761–65. http://dx.doi.org/10.2174/1389203721666200219100216.
Abstract:
Amino acids (AAs) and their metabolites regulate key metabolic pathways that are necessary for growth, reproduction, immunity and metabolism of the body. It has been convinced that metabolic diseases are closely related to disorders of glycolipid metabolism. A growing number of studies have shown that AAs are closely related to energy metabolism. This review focuses on the effects of amino acids (arginine, branched-chain amino acids, glutamine) and their metabolites (short chain fatty acids) on glycolipid metabolism by regulating PI3K/AKT/mTOR and AMPK signaling pathways and GPCRs receptors, reducing intestinal Firmicutes/Bacteroidetes ratio associated with obesity.
5
Barvinska, O. I., N. V. Olkhovych, and N. G. Gorovenko. "Determination of the reference values of amino acids and acylcarnitines level in the newborn dry blood spots in Ukraine." Visnik ukrains'kogo tovaristva genetikiv i selekcioneriv 16, no. 1 (September 7, 2018): 12–19. http://dx.doi.org/10.7124/visnyk.utgis.16.1.898.
Abstract:
Aim. Implementation of neonatal screening of the group of severe inherited disorders of amino acids, fatty and organic acids metabolism in Ukraine involves determination of the biological variation of amino acids and acylcarnitines level in the blood that depends on the gender, geographical origin of the samples and the gestation term of newborn. Methods. The main method of rapid and reliable diagnosis of this group of inherited disorders is determination of amino acids and acylcarnitines level by liquid chromatography tandem mass spectrometry. Results. Reference intervals of amino acids and acylcarnitines concentration in dry blood samples of newborns from different regions of Ukraine haven’t differed. However, it was found necessity to use separate reference intervals of some amino acids and acylcarnitines (citrulline, arginine, methionine, leucine, tyrosine, alanine, histidine, C0, C3, C3DC, C4, C5, C6, C8, C8:1, C10:2, C12, C14:1, C16, C18OH, C18:1OH) for premature and full-term newborns. Also, it was revealed that for male and female newborns it is necessary to use different reference intervals of citrulline, leucine, C8:1, arginine, methionine, C5, C8. Conclusions. In this study it was found that variation of amino acids and acylcarnitines concentration in dry blood spots depends on the newborns gestation term and sex. We have proposed a two-stage procedure of biomarkers interpretation for which the values variation in different neonatal groups was detected.
Keywords: amino acids and acylcarnitines reference intervals, inherited disorders of amino acids, fatty and organic acids metabolism, newborn screening.
6
Sperl, W., D. Skladal, W. Endres, G. Speer, and K. Groke. "Parenteral administration of amino acids in disorders of branched-chain amino acid metabolism." Journal of Inherited Metabolic Disease 17, no. 6 (1994): 753–54. http://dx.doi.org/10.1007/bf00712021.
7
Cheng, Yu-Jung, Chieh-Hsin Lin, and Hsien-Yuan Lane. "d-Amino Acids and pLG72 in Alzheimer’s Disease and Schizophrenia." International Journal of Molecular Sciences 22, no. 20 (October 9, 2021): 10917. http://dx.doi.org/10.3390/ijms222010917.
Abstract:
Numerous studies over the last several years have shown that d-amino acids, especially d-serine, have been related to brain and neurological disorders. Acknowledged neurological functions of d-amino acids include neurotransmission and learning and memory functions through modulating N-methyl-d-aspartate type glutamate receptors (NMDARs). Aberrant d-amino acids level and polymorphisms of genes related to d-amino acids metabolism are associated with neurodegenerative brain conditions. This review summarizes the roles of d-amino acids and pLG72, also known as d-amino acid oxidase activator, on two neurodegenerative disorders, schizophrenia and Alzheimer’s disease (AD). The scope includes the changes in d-amino acids levels, gene polymorphisms of G72 genomics, and the role of pLG72 on NMDARs and mitochondria in schizophrenia and AD. The clinical diagnostic value of d-amino acids and pLG72 and the therapeutic importance are also reviewed.
8
Galan, I. O., S. T. Omelychuk, R. G. Protsyuk, V. I. Petrenko, T. I. Anistratenko, and A. V. Galan. "PREBIOTICS AND NUTRITIONAL CORRECTION IN INTEGRATED THERAPY OF PATIENTS WITH PULMONARY TUBERCULOSIS AND COMORBID PROTEIN METABOLIC DISORDERS." Актуальні проблеми сучасної медицини: Вісник Української медичної стоматологічної академії 20, no. 2 (July 6, 2020): 23–30. http://dx.doi.org/10.31718/2077-1096.20.2.23.
Abstract:
The purpose of the work is to study the effectiveness of prebiotics and nutritional correction as components of the integrated therapy of patients with pulmonary tuberculosis and protein metabolic disorders. 67 patients with pulmonary tuberculosis were examined and then divided into two groups: I group included 35 patients, who received standard antimycobacterial therapy in the intensive phase of the treatment in combination with prebiotic (lactulose) in a dose of 20 ml 3 times a day plus nutriological correction of metabolic disorders; the II group included 32 patients, who received standard antimycobacterial therapy. The control group consisted of 30 healthy individuals of comparable sex and age. In order to study the protein metabolism state, the content of certain substitutable amino acids (ornithine, aspartic acid, serine, glutamic acid, proline, glycine, alanine, cysteine, tyrosine, glutamine) and essential amino acids (lysine, histidine, arginine, threonine, valine, methionine, isoleucine, phenylalanine, leucine) and their total amount (mg per 100 ml of blood serum) were assessed. Results and discussion. It has been found that all patients in groups I and II, which were under our supervision before the treatment, had symptoms of intoxication and respiratory syndrome, the tuberculosis process in the lungs occupied more than three segments and single decaying and rupturing cavities prevailed. The patients with massive bacterial excretion dominated in both groups. Moreover, before the treatment, protein metabolic disorders were found out in both groups. They manifested by the imbalance of individual amino acids and led to a decrease in the total content of essential amino acids in 1,2 – 1,3 times, total content of substitutable amino acids in 1, 2 times that led to a decrease in total content of substitutable amino acids in patients of both groups in 1,2 – 1,3 in comparison with the control group. A comparative analysis of the effectiveness of prebiotics (lactulose) and nutritional correction of metabolic disorders in combination with antimycobacterial therapy in the TB patientsl with protein metabolic disorders showed that probiotics and dietary modifications contribute to improving protein metabolism.
This has been evidenced by a significantly high (p <0,05) level of the total content of essential amino acids in blood serum, total content of substitutable amino acids and total content of amino acids (reliably reaching the level of indicators in healthy individuals) compared with the relevant indicators in the group of the patients receiving only antimycobacterial therapy. Probiotics and nutritional correction promote the rapid dynamics of the disappearance of respiratory syndromes and intoxication, promote cavity healing, and reduce the duration of treatment. Conclusions. The results of our research obtained convincingly suggest that prior to the beginning of treatment; all patients with pulmonary tuberculosis have protein metabolic disorders that require selecting a way to correct these disorders in order to increase the effectiveness of TB treatment. Antimycobacterial therapy during two months contributes to the positive dynamics of protein metabolism correction, but complete normalization of the amino acid composition in blood serum does not occur. Applying prebiotics (lactulose) and nutriological correction of metabolic disorders in combination with antimycobacterial therapy promotes the normalization of protein metabolism and increases the effectiveness of the TB treatment.
9
Medghalchi, Abdolreza. "The Effect of Amino Acid, Carbohydrate, and Lipid Metabolism Disorders on Eyes." Caspian Journal of Neurological Sciences 6, no. 3 (July 1, 2020): 190–96. http://dx.doi.org/10.32598/cjns.6.22.5.
Abstract:
Inherited metabolic disorders (IMDs) are a class of genetic disorders. Each metabolic disorder may have different forms with different age of onset, clinical manifestations, severity, and even type of inheritance. Ideally, a group of different specialists, including ophthalmologists, pediatricians, biochemists, and medical geneticists are needed for the final diagnosis and management of IMDs. Because of the importance of the aforementioned issue, we investigated the effect of IMDs on the eye in this review. Metabolic disorders can induce abnormalities in conjunctiva, cornea, lens, retina, optic nerve, and eye motility. In this study, the authors aimed to address the effect of metabolic diseases of amino acids, carbohydrates, and lipids on eye metabolism. Because of the direct toxic mechanisms of abnormal metabolites on the eyes and regarding the effect of eye monitoring on follow-up, management, and treatment of IMDs, a detailed ophthalmological assessment is essential.
10
Kožich, Viktor, and Sally Stabler. "Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism." Journal of Nutrition 150, Supplement_1 (October 1, 2020): 2506S—2517S. http://dx.doi.org/10.1093/jn/nxaa134.
Abstract:
ABSTRACT The metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation, homocysteine (Hcy) remethylation, or cobalamin and folate metabolism, in Hcy transsulfuration, and Cys and hydrogen sulfide (H2S) catabolism. These disorders may manifest between the newborn period and late adulthood by a combination of neuropsychiatric abnormalities, thromboembolism, megaloblastic anemia, hepatopathy, myopathy, and bone and connective tissue abnormalities. Biochemical features include metabolite deficiencies (e.g. Met, S-adenosylmethionine (AdoMet), intermediates in 1-carbon metabolism, Cys, or glutathione) and/or their accumulation (e.g. S-adenosylhomocysteine, Hcy, H2S, or sulfite). Treatment should be started as early as possible and may include a low-protein/low-Met diet with Cys-enriched amino acid supplements, pharmacological doses of B vitamins, betaine to stimulate Hcy remethylation, the provision of N-acetylcysteine or AdoMet, or experimental approaches such as liver transplantation or enzyme replacement therapy. In several disorders, patients are exposed to long-term markedly elevated Met concentrations. Although these conditions may inform on Met toxicity, interpretation is difficult due to the presence of additional metabolic changes. Two disorders seem to exhibit Met-associated toxicity in the brain. An increased risk of demyelination in patients with Met adenosyltransferase I/III (MATI/III) deficiency due to biallelic mutations in the MATIA gene has been attributed to very high blood Met concentrations (typically >800 μmol/L) and possibly also to decreased liver AdoMet synthesis. An excessively high Met concentration in some patients with cystathionine β-synthase deficiency has been associated with encephalopathy and brain edema, and direct toxicity of Met has been postulated. In summary, studies in patients with various disorders of SAA metabolism showed complex metabolic changes with distant cellular consequences, most of which are not attributable to direct Met toxicity.
11
Kareem, Adel A. "Disturbances of Amino Acid Metabolism in Neurologic Disorders detected by fluorescent high performance liquid chromotograghy (HPLC) in Baghdad - IRAQ." AL-Kindy College Medical Journal 13, no. 1 (November 13, 2019): 39–45. http://dx.doi.org/10.47723/kcmj.v13i1.121.
Abstract:
Background:Amino acid disorders are a major group of inborn error metabolism (IEM) with variable clinical presentation; its diagnosis constitutes a real challenge in a community with high consanguinity rate and no systematic newborn screening.
Objectives: to provide data about amino acid disorders detected in high-risk Iraqi children by using quantitative amino acid fluorescent high performance liquid chromatography (HPLC) analysis.
Type of the study: Cross-sectional study.
Methods: a descriptive cross sectional study from 1st February to 1st December 2014, at Neurological ward and clinic of the Children Welfare teaching Hospital, in Baghdad - Iraq. Plasma specimens of 500 patients, with clinical suspicion of inborn error of metabolism (IEM) because of unexplained neurological deficits, unexplained developmental delay, recurrent coma and/or Neuro-degeneration, hair changes and/or lethargy, poor feeding, vomiting and selected cases of autistic spectrum syndrome or with positive screening, were analyzed for amino acids by high performance liquid chromatography (HPLC). The amino acid disorders were confirmed in fifty patients were; clinical data of patients were reported and analyzed statistically.
Results: out of 500 patients visiting the neurological outpatient and ward, clinical and neurological finding were recorded as well as the family history and/or other symptoms suggestive of aminoacidopathy, Sixty patients were confirmed their diagnosis as amino acid disorders, ten patients were excluded because they lost the follow up or there is no solid base for a causal relationship between detected abnormal amino acids and neurological disorders, therefore only 50 patients were
enrolled in the study. Patients with Phenylketonuria were the most frequent 24 (48%), homocystinuria 14 (28%), maple syrup urine disease 9 (18%) & other amino acid disorder, (Citrullinemia, non-ketotic hyperglycinemia & Tyrosinemia) 1for each disorder (2%). Considerable delay in diagnosis was noticed which lead to variable neurological abnormalities in most patients and the psychomotor delay was the main clinical presentation at time of diagnosis 34 (68%).
Conclusion: in the absence of newborn screening, the majority of Aminoacidopathies cases was still diagnosed clinically, but delayed. The importance of clinical awareness and accurate biochemical analysis were the key tools for diagnosis and the necessity for a comprehensive national newborn screening program.
12
Wang, Dunfang, Xuran Ma, Shanshan Guo, Yanli Wang, Tao Li, Dixin Zou, Hongxin Song, Weipeng Yang, and Yongxiang Ge. "Effect of Huangqin Tang on Urine Metabolic Profile in Rats with Ulcerative Colitis Based on UPLC-Q-Exactive Orbitrap MS." Evidence-Based Complementary and Alternative Medicine 2020 (April 22, 2020): 1–11. http://dx.doi.org/10.1155/2020/1874065.
Abstract:
As a classic prescription, Huangqin Tang (HQT) has been widely applied to treat ulcerative colitis (UC), although its pharmacological mechanisms are not clear. In this study, urine metabolomics was first analysed to explore the therapeutic mechanisms of HQT in UC rats induced by TNBS. We identified 28 potential biomarkers affected by HQT that might cause changes in urine metabolism in UC rats, mapped the network of metabolic pathways, and revealed how HQT affects metabolism of UC rats. The results showed that UC affects amino acid metabolism and biosynthesis of unsaturated fatty acids and impairs the tricarboxylic acid cycle (TCA cycle). UC induced inflammatory and gastrointestinal reactions by inhibiting the transport of fatty acids and disrupting amino acid metabolism. HQT plays key roles via regulating the level of biomarkers in the metabolism of amino acids, lipids, and so on, normalizing metabolic disorders. In addition, histopathology and other bioinformatics analysis further confirm that HQT altered UC rat physiology and pathology, ultimately affecting metabolic function of UC rats.
13
Tesseraud, Sophie, Sonia Métayer Coustard, Anne Collin, and Iban Seiliez. "Role of sulfur amino acids in controlling nutrient metabolism and cell functions: implications for nutrition." British Journal of Nutrition 101, no. 8 (December 15, 2008): 1132–39. http://dx.doi.org/10.1017/s0007114508159025.
Abstract:
Protein synthesis is affected when an insufficient level of sulfur amino acids is available. This defect may originate from dietary amino acid deficiency and/or excessive amino acid utilisation for other purposes such as the synthesis of glutathione and acute-phase proteins during catabolic stress. Sulfur amino acids are recognised to exert other significant functions since they are precursors of essential molecules, are involved in the methylation process, participate in the control of oxidative status, and may act as mediators affecting metabolism and cell functions. Despite this increased understanding of the role of sulfur amino acids, many questions still remain unanswered due to the complexity of the mechanisms involved. Moreover, surprising effects of dietary sulfur amino acids have been reported, with the development of disorders in cases of both deficiency and excess. These findings indicate the importance of defining adequate levels of intake and providing a rationale for nutritional advice. The aim of the present review is to provide an overview on the roles of sulfur amino acids as regulators of nutrient metabolism and cell functions, with emphasis placed on the implications for nutrition.
14
Yue, Lingling, Pengyun Zeng, Yanhong Li, Ye Chai, Chongyang Wu, and Bingren Gao. "Nontargeted and targeted metabolomics approaches reveal the key amino acid alterations involved in multiple myeloma." PeerJ 10 (February 9, 2022): e12918. http://dx.doi.org/10.7717/peerj.12918.
Abstract:
Purpose Multiple myeloma (MM), a kind of malignant neoplasm of clonal plasma cells in the bone marrow, is a refractory disease. Understanding the metabolism disorders and identification of metabolomics pathways as well as key metabolites will provide new insights for exploring diagnosis and therapeutic targets of MM. Methods We conducted nontargeted metabolomics analysis of MM patients and normal controls (NC) using ultra-high-performance liquid chromatography (UHPLC) combined with quadrupole time-of-flight mass spectrometry (Q-TOF-MS) in 40 cases of cohort 1 subjects. The targeted metabolomics analysis of amino acids using multiple reaction monitoring-mass spectrometry (MRM-MS) was also performed in 30 cases of cohort 1 and 30 cases of cohort 2 participants, to comprehensively investigate the metabolomics disorders of MM. Results The nontargeted metabolomics analysis in cohort 1 indicated that there was a significant metabolic signature change between MM patients and NC. The differential metabolites were mainly enriched in metabolic pathways related to amino acid metabolism, such as protein digestion and absorption, and biosynthesis of amino acids. Further, the targeted metabolomics analysis of amino acids in both cohort 1 and cohort 2 revealed differential metabolic profiling between MM patients and NC. We identified 12 and 14 amino acid metabolites with altered abundance in MM patients compared to NC subjects, in cohort 1 and cohort 2, respectively. Besides, key differential amino acid metabolites, such as choline, creatinine, leucine, tryptophan, and valine, may discriminate MM patients from NC. Moreover, the differential amino acid metabolites were associated with clinical indicators of MM patients. Conclusions Our findings indicate that amino acid metabolism disorders are involved in MM. The differential profiles reveal the potential utility of key amino acid metabolites as diagnostic biomarkers of MM. The alterations in metabolome, especially the amino acid metabolome, may provide more evidences for elucidating the pathogenesis and development of MM.
15
Xu, Jing, Youseff Jakher, and Rebecca C. Ahrens-Nicklas. "Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders." International Journal of Molecular Sciences 21, no. 20 (October 11, 2020): 7490. http://dx.doi.org/10.3390/ijms21207490.
Abstract:
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase complex (BCKDC), which catalyzes the irreversible catabolism of branched-chain amino acids (BCAAs). Current management of this BCAA dyshomeostasis consists of dietary restriction of BCAAs and liver transplantation, which aims to partially restore functional BCKDC activity in the periphery. These treatments improve the circulating levels of BCAAs and significantly increase survival rates in MSUD patients. However, significant cognitive and psychiatric morbidities remain. Specifically, patients are at a higher lifetime risk for cognitive impairments, mood and anxiety disorders (depression, anxiety, and panic disorder), and attention deficit disorder. Recent literature suggests that the neurological sequelae may be due to the brain-specific roles of BCAAs. This review will focus on the derangements of BCAAs observed in the brain of MSUD patients and will explore the potential mechanisms driving neurologic dysfunction. Finally, we will discuss recent evidence that implicates the relevance of BCAA metabolism in other neurological disorders. An understanding of the role of BCAAs in the central nervous system may facilitate future identification of novel therapeutic approaches in MSUD and a broad range of neurological disorders.
16
Delaye, Jean-Baptiste, Franck Patin, Emmanuelle Lagrue, Olivier Le Tilly, Clement Bruno, Marie-Laure Vuillaume, Martine Raynaud, et al. "Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 55, no. 5 (February 22, 2018): 543–52. http://dx.doi.org/10.1177/0004563218760351.
Abstract:
Objectives Autism spectrum disorders and intellectual disability present a challenge for therapeutic and dietary management. We performed a re-analysis of plasma amino acid chromatography of children with autism spectrum disorders ( n = 22) or intellectual disability ( n = 29) to search for a metabolic signature that can distinguish individuals with these disorders from controls ( n = 30). Methods We performed univariate and multivariate analyses using different machine learning strategies, from the raw data of the amino acid chromatography. Finally, we analysed the metabolic pathways associated with discriminant biomarkers. Results Multivariate analysis revealed models to discriminate patients with autism spectrum disorders or intellectual disability and controls from plasma amino acid profiles ( P < 0.0003). Univariate analysis showed that autism spectrum disorder and intellectual disability patients shared similar differences relative to controls, including lower glutamate ( P < 0.0001 and P = 0.0002, respectively) and serine ( P = 0.002 for both) concentrations. The multivariate model ( P < 6.12.10−7) to discriminate between autism spectrum disorders and intellectual disability revealed the involvement of urea, 3-methyl-histidine and histidine metabolism. Biosigner analysis and univariate analysis confirmed the role of 3-methylhistidine ( P = 0.004), histidine ( P = 0.003), urea ( P = 0.0006) and lysine ( P = 0.002). Conclusions We revealed discriminant metabolic patterns between autism spectrum disorders, intellectual disability and controls. Amino acids known to play a role in neurotransmission were discriminant in the models comparing autism spectrum disorders or intellectual disability to controls, and histidine and b-alanine metabolism was specifically highlighted in the model.
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Bastings, Jacco J. A. J., Hans M. van Eijk, Steven W. Olde Damink, and Sander S. Rensen. "d-amino Acids in Health and Disease: A Focus on Cancer." Nutrients 11, no. 9 (September 12, 2019): 2205. http://dx.doi.org/10.3390/nu11092205.
Abstract:
d-amino acids, the enantiomeric counterparts of l-amino acids, were long considered to be non-functional or not even present in living organisms. Nowadays, d-amino acids are acknowledged to play important roles in numerous physiological processes in the human body. The most commonly studied link between d-amino acids and human physiology concerns the contribution of d-serine and d-aspartate to neurotransmission. These d-amino acids and several others have also been implicated in regulating innate immunity and gut barrier function. Importantly, the presence of certain d-amino acids in the human body has been linked to several diseases including schizophrenia, amyotrophic lateral sclerosis, and age-related disorders such as cataract and atherosclerosis. Furthermore, increasing evidence supports a role for d-amino acids in the development, pathophysiology, and treatment of cancer. In this review, we aim to provide an overview of the various sources of d-amino acids, their metabolism, as well as their contribution to physiological processes and diseases in man, with a focus on cancer.
18
LEMIEUX, BERNARD, ROBERT GIGUERE, DENIS CYR, DENIS SHAPCOTT, MARK MCCANN, and MENDEL TUCHMAN. "Screening Urine of 3-Week-Old Newborns: Lack of Association Between Sudden Infant Death Syndrome and Some Metabolic Disorders." Pediatrics 91, no. 5 (May 1, 1993): 986–88. http://dx.doi.org/10.1542/peds.91.5.986.
Abstract:
The only genetic metabolic disorder clearly linked thus far to sudden infant death syndrome (SIDS) is medium-chain acylcoenzyme A dehydrogenase (MCAD) deficiency. There has been no evidence for an association between SIDS and other hereditary metabolic disorders. A few studies, which were often carried out retrospectively on single subjects, have involved the measurement of various metabolites including organic acids, carnitine, free amino acids, and the enzymes implicated in the oxidation of fatty acids, and these have not linked SIDS to inborn errors of metabolism. The study of Harpey et al1 reported that 15% of SIDS infants have a fatty acid β-oxidation defect.
19
Pepplinkhuizen, L., F. M. M. A. van der Heijden, S. Tuinier, W. M. A. Verhoeven, and D. Fekkes. "The acute transient polymorphic psychosis: a biochemical subtype of the cycloid psychosis." Acta Neuropsychiatrica 15, no. 1 (February 2003): 38–43. http://dx.doi.org/10.1034/j.1601-5215.2003.00016.x.
Abstract:
Background:The pathogenesis of atypical psychoses, in particularly those characterized by polymorphic psychopathology, is hypothesized to be related to disturbances in amino acid metabolism.Objective:In the present study, the role of the amino acid serine was investigated in patients with acute transient polymorphic psychosis.Methods:Patients were loaded with serine and with the amino acids glycine and alanine as controls and subsequently evaluated for the development of psychopathological symptoms. In addition, plasma levels of amino acids were measured.Results:In a subgroup of patients suffering from atypical psychoses, this biochemical challenge resulted in the reappearance of psychedelic symptoms in particular. Furthermore, significantly lower plasma concentrations of serine were found. In vitro experiments revealed a disturbance in the one-carbon metabolism. In another group of patients the loading provoked vegetative symptoms and fatigue.Conclusions:Disturbances in amino acid metabolism may be involved in the emergence of certain psychotic disorders.
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Humer, Elke, Christoph Pieh, and Georg Brandmayr. "Metabolomics in Sleep, Insomnia and Sleep Apnea." International Journal of Molecular Sciences 21, no. 19 (September 30, 2020): 7244. http://dx.doi.org/10.3390/ijms21197244.
Abstract:
Sleep-wake disorders are highly prevalent disorders, which can lead to negative effects on cognitive, emotional and interpersonal functioning, and can cause maladaptive metabolic changes. Recent studies support the notion that metabolic processes correlate with sleep. The study of metabolite biomarkers (metabolomics) in a large-scale manner offers unique opportunities to provide insights into the pathology of diseases by revealing alterations in metabolic pathways. This review aims to summarize the status of metabolomic analyses-based knowledge on sleep disorders and to present knowledge in understanding the metabolic role of sleep in psychiatric disorders. Overall, findings suggest that sleep-wake disorders lead to pronounced alterations in specific metabolic pathways, which might contribute to the association of sleep disorders with other psychiatric disorders and medical conditions. These alterations are mainly related to changes in the metabolism of branched-chain amino acids, as well as glucose and lipid metabolism. In insomnia, alterations in branched-chain amino acid and glucose metabolism were shown among studies. In obstructive sleep apnea, biomarkers related to lipid metabolism seem to be of special importance. Future studies are needed to examine severity, subtypes and treatment of sleep-wake disorders in the context of metabolite levels.
21
Holeček, Milan. "Branched-Chain Amino Acids and Branched-Chain Keto Acids in Hyperammonemic States: Metabolism and as Supplements." Metabolites 10, no. 8 (August 9, 2020): 324. http://dx.doi.org/10.3390/metabo10080324.
Abstract:
In hyperammonemic states, such as liver cirrhosis, urea cycle disorders, and strenuous exercise, the catabolism of branched-chain amino acids (BCAAs; leucine, isoleucine, and valine) is activated and BCAA concentrations decrease. In these conditions, BCAAs are recommended to improve mental functions, protein balance, and muscle performance. However, clinical trials have not demonstrated significant benefits of BCAA-containing supplements. It is hypothesized that, under hyperammonemic conditions, enhanced glutamine availability and decreased BCAA levels facilitate the amination of branched-chain keto acids (BCKAs; α-ketoisocaproate, α-keto-β-methylvalerate, and α-ketoisovalerate) to the corresponding BCAAs, and that BCKA supplementation may offer advantages over BCAAs. Studies examining the effects of ketoanalogues of amino acids have provided proof that subjects with hyperammonemia can effectively synthesize BCAAs from BCKAs. Unfortunately, the benefits of BCKA administration have not been clearly confirmed. The shortcoming of most reports is the use of mixtures intended for patients with renal insufficiency, which might be detrimental for patients with liver injury. It is concluded that (i) BCKA administration may decrease ammonia production, attenuate cataplerosis, correct amino acid imbalance, and improve protein balance and (ii) studies specifically investigating the effects of BCKA, without the interference of other ketoanalogues, are needed to complete the information essential for decisions regarding their suitability in hyperammonemic conditions.
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Olga A. Gracheva, Alizade S. Gasanov, Damir R. Amirov, Bulat F. Tamimdarov, Dina M. Mukhutdinova, Sergey Yu. Smolentsev, Irina I. Strelnikova, and Tatyana V. Izekeeva. "Study of the effect of different levels of arginine in feed on broiler chickens." International Journal of Research in Pharmaceutical Sciences 11, no. 1 (January 28, 2020): 908–12. http://dx.doi.org/10.26452/ijrps.v11i1.1913.
Abstract:
Amino acids are the basic structural units of protein molecules in the body. Currently, about 300 amino acids are known, of which 26 are studied best. Amino acids or their derivatives (for example, immune bodies) are part of enzymes, hormones, pigments, and other specific substances that play a crucial role in digestive and metabolic processes. In the process of metabolism, many amino acids are synthesized in the body from other amino acids or compounds, and therefore they are called interchangeable. Amino acids that are not synthesized in the body or are formed in insufficient quantities are called indispensable. According to the content and ratio of essential amino acids, feed proteins are subdivided into full and inferior. Deficiency, absence, or imbalance of essential amino acids in animal diets is accompanied by a deterioration in protein use, metabolic disorders, and decreased productivity. The following amino acids are indispensable; arginine, viburnum, histidine, isoleucine, leucine, lysine, methionine, threonine, tryptophan, phenylalanine. Among the essential amino acids, especially important ones, are those called critical. These are lysine, methionine + cystia, threonine, and tryptophan. A deficiency, absence, or imbalance of essential amino acids in animal diets is accompanied by a deterioration in protein use, metabolic disorders, and decreased productivity. Research and production experiment was conducted within Olenka Poultry Factory LLC and the problematic research laboratory of feed additives of the Department of Animal Feeding and Feed Technology named after P. D. Pshenichny at the National University of Life and Environmental Sciences. The effective level of arginine in compound feed for broilers of the Cobb-500 cross was experimentally determined. The use of compound feed with arginine levels in the first rearing period (1 to 10 days) - 1.28%, in the second (11 to 22 days) - 1.15% and in the third (23 to 42 days) - 1.11% gives the opportunity to get broiler chickens at the age of 42 days, weighing 2.654 kg, at a feed expenditure of 1.78 kg per 1 kg of gain.
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Butterfield, David Allan, Maria Favia, Iolanda Spera, Annalisa Campanella, Martina Lanza, and Alessandra Castegna. "Metabolic Features of Brain Function with Relevance to Clinical Features of Alzheimer and Parkinson Diseases." Molecules 27, no. 3 (January 30, 2022): 951. http://dx.doi.org/10.3390/molecules27030951.
Abstract:
Brain metabolism is comprised in Alzheimer’s disease (AD) and Parkinson’s disease (PD). Since the brain primarily relies on metabolism of glucose, ketone bodies, and amino acids, aspects of these metabolic processes in these disorders—and particularly how these altered metabolic processes are related to oxidative and/or nitrosative stress and the resulting damaged targets—are reviewed in this paper. Greater understanding of the decreased functions in brain metabolism in AD and PD is posited to lead to potentially important therapeutic strategies to address both of these disorders, which cause relatively long-lasting decreased quality of life in patients.
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Marklová, Eliška. "Microelements and Inherited Metabolic Diseases." Acta Medica (Hradec Kralove, Czech Republic) 45, no. 4 (2002): 129–33. http://dx.doi.org/10.14712/18059694.2019.69.
Abstract:
In addition to the main groups of inherited metabolic diseases, including mitochondrial, peroxisomal and lysosomal defects, organic acidurias, porphyrias, defects of amino acids, saccharides and fatty acids metabolism, disorders of transport and utilisation of microelements have also been recognized. Recent findings concerning hereditary hemochromatosis (iron), Wilson and Menkes diseases (copper), molybdenum cofactor deficiency (molybdenum), defects of cobalamine synthesis (cobalt) and acrodermatitis enteropathica (zinc) are reviewed.
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Breuer, Maximilian, and Shunmoogum A. Patten. "A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish." Biomolecules 10, no. 9 (September 22, 2020): 1352. http://dx.doi.org/10.3390/biom10091352.
Abstract:
Inborn errors of metabolism cause abnormal synthesis, recycling, or breakdown of amino acids, neurotransmitters, and other various metabolites. This aberrant homeostasis commonly causes the accumulation of toxic compounds or depletion of vital metabolites, which has detrimental consequences for the patients. Efficient and rapid intervention is often key to survival. Therefore, it requires useful animal models to understand the pathomechanisms and identify promising therapeutic drug targets. Zebrafish are an effective tool to investigate developmental mechanisms and understanding the pathophysiology of disorders. In the past decades, zebrafish have proven their efficiency for studying genetic disorders owing to the high degree of conservation between human and zebrafish genes. Subsequently, several rare inherited metabolic disorders have been successfully investigated in zebrafish revealing underlying mechanisms and identifying novel therapeutic targets, including methylmalonic acidemia, Gaucher’s disease, maple urine disorder, hyperammonemia, TRAPPC11-CDGs, and others. This review summarizes the recent impact zebrafish have made in the field of inborn errors of metabolism.
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Mayrink, Jussara, Debora F. Leite, Guilherme M. Nobrega, Maria Laura Costa, and Jose Guilherme Cecatti. "Prediction of pregnancy-related hypertensive disorders using metabolomics: a systematic review." BMJ Open 12, no. 4 (April 2022): e054697. http://dx.doi.org/10.1136/bmjopen-2021-054697.
Abstract:
ObjectiveTo determine the accuracy of metabolomics in predicting hypertensive disorders in pregnancy.DesignSystematic review of observational studies.Data sources and study eligibility criteriaAn electronic literature search was performed in June 2019 and February 2022. Two researchers independently selected studies published between 1998 and 2022 on metabolomic techniques applied to predict the condition; subsequently, they extracted data and performed quality assessment. Discrepancies were dealt with a third reviewer. The primary outcome was pre-eclampsia. Cohort or case–control studies were eligible when maternal samples were taken before diagnosis of the hypertensive disorder.Study appraisal and synthesis methodsData on study design, maternal characteristics, how hypertension was diagnosed, metabolomics details and metabolites, and accuracy were independently extracted by two authors.ResultsAmong 4613 initially identified studies on metabolomics, 68 were read in full text and 32 articles were included. Studies were excluded due to duplicated data, study design or lack of identification of metabolites. Metabolomics was applied mainly in the second trimester; the most common technique was liquid-chromatography coupled to mass spectrometry. Among the 122 different metabolites found, there were 23 amino acids and 21 fatty acids. Most of the metabolites were involved with ammonia recycling; amino acid metabolism; arachidonic acid metabolism; lipid transport, metabolism and peroxidation; fatty acid metabolism; cell signalling; galactose metabolism; nucleotide sugars metabolism; lactose degradation; and glycerolipid metabolism. Only citrate was a common metabolite for prediction of early-onset and late-onset pre-eclampsia. Vitamin D was the only metabolite in common for pre-eclampsia and gestational hypertension prediction. Meta-analysis was not performed due to lack of appropriate standardised data.Conclusions and implicationsMetabolite signatures may contribute to further insights into the pathogenesis of pre-eclampsia and support screening tests. Nevertheless, it is mandatory to validate such methods in larger studies with a heterogeneous population to ascertain the potential for their use in clinical practice.PROSPERO registration numberCRD42018097409.
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Gu, Yaping, Xiu Luo, Subhabrata Basu, Hisashi Fujioka, and Neena Singh. "Cell-Specific Metabolism and Pathogenesis of Transmembrane Prion Protein." Molecular and Cellular Biology 26, no. 7 (April 1, 2006): 2697–715. http://dx.doi.org/10.1128/mcb.26.7.2697-2715.2006.
Abstract:
ABSTRACT The C-transmembrane form of prion protein (CtmPrP) has been implicated in prion disease pathogenesis, but the factors underlying its biogenesis and cyotoxic potential remain unclear. Here we show that CtmPrP interferes with cytokinesis in cell lines where it is transported to the plasma membrane. These cells fail to separate following cell division, assume a variety of shapes and sizes, and contain multiple nuclei, some of which are pyknotic. Furthermore, the synthesis and transport of CtmPrP to the plasma membrane are modulated through a complex interaction between cis- and trans-acting factors and the endoplasmic reticulum translocation machinery. Thus, insertion of eight amino acids before or within the N region of the N signal peptide (N-SP) of PrP results in the exclusive synthesis of CtmPrP regardless of the charge conferred to the N region. Subsequent processing and transport of CtmPrP are modulated by specific amino acids in the N region of the N-SP and by the cell line of expression. Although the trigger for CtmPrP upregulation in naturally occurring prion disorders remains elusive, these data highlight the underlying mechanisms of CtmPrP biogenesis and neurotoxicity and reinforce the idea that CtmPrP may serve as the proximate cause of neuronal death in certain prion disorders.
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Li, Zhenrui, Keiyo Takubo, Pengxu Qian, Toshio Suda, and Linheng Li. "Amino Acid Transporter X Is Required for Hematopoietic Stem Cell Maintenance through Regulating Specific Amino Acids Level." Blood 126, no. 23 (December 3, 2015): 1166. http://dx.doi.org/10.1182/blood.v126.23.1166.1166.
Abstract:
Abstract Hematopoietic stem cells (HSCs) maintenance is required to preserve stem cell pool and compensate the dynamic loss of blood cells. Previous studies of HSCs maintenance mainly focus on the quiescent versus active state of HSCs and accumulated evidence indicates that metabolism plays a critical role in coordinating divergent stem cell states. While recent reports largely emphasized the role of catabolic glycolysis on long-term (LT) HSC maintenance, we found that free amino acids are enriched in primitive stem cell by ~1.5 fold. Given that amino acid metabolism in HSCs is largely unknown, we first cultured bone marrow (BM) cells with individual amino acid deprived medium to study the function of individual amino acids on HSCs in vitro. Surprisingly, we found that specific amino acids, including valine, methionine and threonine (VMT), are essential for maintaining primitive HSCs, as removing them (VMT) individually from media dramatically reduced primitive HSC number by over 95%. Thus, we hypothesize that specific amino acids are critical for preserving the stem cell pool and maintaining their function. To test it, we transplanted equal number of cells cultured with complete or individual VMT deprived media into lethally irradiated recipient mice and found VMT deprivation in vitro impaired stem cell repopulation ability. We also identified the amino acid transporter X (AATX) that is specifically expressed in HSCs and maintain VMT levels within the cell. Furthermore, inhibition of AATX reduced LT-HSC (LSK CD34- Flk2-) number in vivo. BM transplantation indicated that AATX inhibition impaired stem cell long-term reconstitution ability by over 2 fold. Our studies uncovered a role of amino acid metabolism in HSC maintenance and discovered the underlying molecular mechanism related to the amino acid transport. This finding may impact clinical treatment of blood disorders including leukemia. Disclosures No relevant conflicts of interest to declare.
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Kelts, Drew G., Denise Ney, Carolyn Bay, Jean-Marie Saudubray, and William L. Nyhan. "Studies on Requirements for Amino Acids in Infants with Disorders of Amino Acid Metabolism. I. Effect of Alanine." Pediatric Research 19, no. 1 (January 1985): 86–91. http://dx.doi.org/10.1203/00006450-198501000-00023.
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De Pasquale, Valeria, Marianna Caterino, Michele Costanzo, Roberta Fedele, Margherita Ruoppolo, and Luigi Michele Pavone. "Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism." International Journal of Molecular Sciences 21, no. 12 (June 12, 2020): 4211. http://dx.doi.org/10.3390/ijms21124211.
Abstract:
Mucopolysaccharidoses (MPSs) are inherited disorders of the glycosaminoglycan (GAG) metabolism. The defective digestion of GAGs within the intralysosomal compartment of affected patients leads to a broad spectrum of clinical manifestations ranging from cardiovascular disease to neurological impairment. The molecular mechanisms underlying the progression of the disease downstream of the genetic mutation of genes encoding for lysosomal enzymes still remain unclear. Here, we applied a targeted metabolomic approach to a mouse model of PS IIIB, using a platform dedicated to the diagnosis of inherited metabolic disorders, in order to identify amino acid and fatty acid metabolic pathway alterations or the manifestations of other metabolic phenotypes. Our analysis highlighted an increase in the levels of branched-chain amino acids (BCAAs: Val, Ile, and Leu), aromatic amino acids (Tyr and Phe), free carnitine, and acylcarnitines in the liver and heart tissues of MPS IIIB mice as compared to the wild type (WT). Moreover, Ala, Met, Glu, Gly, Arg, Orn, and Cit amino acids were also found upregulated in the liver of MPS IIIB mice. These findings show a specific impairment of the BCAA and fatty acid catabolism in the heart of MPS IIIB mice. In the liver of affected mice, the glucose-alanine cycle and urea cycle resulted in being altered alongside a deregulation of the BCAA metabolism. Thus, our data demonstrate that an accumulation of BCAAs occurs secondary to lysosomal GAG storage, in both the liver and the heart of MPS IIIB mice. Since BCAAs regulate the biogenesis of lysosomes and autophagy mechanisms through mTOR signaling, impacting on lipid metabolism, this condition might contribute to the progression of the MPS IIIB disease.
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Piubelli, Luciano, Giulia Murtas, Valentina Rabattoni, and Loredano Pollegioni. "The Role of D-Amino Acids in Alzheimer’s Disease." Journal of Alzheimer's Disease 80, no. 2 (March 23, 2021): 475–92. http://dx.doi.org/10.3233/jad-201217.
Abstract:
Alzheimer’s disease (AD), the main cause of dementia worldwide, is characterized by a complex and multifactorial etiology. In large part, excitatory neurotransmission in the central nervous system is mediated by glutamate and its receptors are involved in synaptic plasticity. The N-methyl-D-aspartate (NMDA) receptors, which require the agonist glutamate and a coagonist such as glycine or the D-enantiomer of serine for activation, play a main role here. A second D-amino acid, D-aspartate, acts as agonist of NMDA receptors. D-amino acids, present in low amounts in nature and long considered to be of bacterial origin, have distinctive functions in mammals. In recent years, alterations in physiological levels of various D-amino acids have been linked to various pathological states, ranging from chronic kidney disease to neurological disorders. Actually, the level of NMDA receptor signaling must be balanced to promote neuronal survival and prevent neurodegeneration: this signaling in AD is affected mainly by glutamate availability and modulation of the receptor’s functions. Here, we report the experimental findings linking D-serine and D-aspartate, through NMDA receptor modulation, to AD and cognitive functions. Interestingly, AD progression has been also associated with the enzymes related to D-amino acid metabolism as well as with glucose and serine metabolism. Furthermore, the D-serine and D-/total serine ratio in serum have been recently proposed as biomarkers of AD progression. A greater understanding of the role of D-amino acids in excitotoxicity related to the pathogenesis of AD will facilitate novel therapeutic treatments to cure the disease and improve life expectancy.
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Freeto, Scott, Donald Mason, Jie Chen, Robert H. Scott, Srinivas B. Narayan, and Michael J. Bennett. "A rapid ultra performance liquid chromatography tandem mass spectrometric method for measuring amino acids associated with maple syrup urine disease, tyrosinaemia and phenylketonuria." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 44, no. 5 (September 1, 2007): 474–81. http://dx.doi.org/10.1258/000456307781646012.
Abstract:
Background: Patients with inherited disorders of amino acid metabolism including maple syrup urine disease, tyrosinaemia and phenylketonuria on dietary management require frequent monitoring of disease-relevant plasma amino acids in order to optimize therapeutic benefit. Poorly controlled maple syrup urine disease in particular may result in catastrophic metabolic decompensation. Most methods for monitoring amino acid concentrations are time-consuming and have clinically impractical turnaround times, particularly when the required time to run standards and control samples is taken into account. Methods: We have analysed plasma amino acids using standard ion-exchange chromatography with ninhydrin detection in an amino acid analyser and compared the data with that obtained for the same samples using ultra-performance liquid chromatography (UPLCTM) separation with detection by tandem mass spectrometry. Results: The two methodologies compared very well for the measurement of six important amino acids with correlation coefficients greater than 0.96 for all. The time for sample preparation was longer for the UPLC methodology as batched derivatization and evaporation is required but UPLC-tandem mass spectrometry generated sample results every 8 min while conventional ion-exchange chromatography took almost 1 h per sample. Conclusion: UPLC-tandem mass spectrometry generates data that compares well with existing 'gold standard' methodologies but significantly reduces sample turnaround time. Decreasing the turnaround time for amino acid analyses is very likely to improve clinical care for patients with amino acid disorders as dietary adjustments can be made sooner.
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Pulido, Jose E., Jose S. Pulido, Jay C. Erie, Jorge Arroyo, Kurt Bertram, Miao-Jen Lu, and Scott A. Shippy. "A Role for Excitatory Amino Acids in Diabetic Eye Disease." Experimental Diabetes Research 2007 (2007): 1–7. http://dx.doi.org/10.1155/2007/36150.
Abstract:
Diabetic retinopathy is a leading cause of vision loss. The primary clinical hallmarks are vascular changes that appear to contribute to the loss of sight. In a number of neurodegenerative disorders there is an appreciation that increased levels of excitatory amino acids are excitotoxic. The primary amino acid responsible appears to be the neurotransmitter glutamate. This review examines the nature of glutamatergic signaling at the retina and the growing evidence from clinical and animal model studies that glutamate may be playing similar excitotoxic roles at the diabetic retina.
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Holeček, Milan. "Serine Metabolism in Health and Disease and as a Conditionally Essential Amino Acid." Nutrients 14, no. 9 (May 9, 2022): 1987. http://dx.doi.org/10.3390/nu14091987.
Abstract:
L-serine plays an essential role in a broad range of cellular functions including protein synthesis, neurotransmission, and folate and methionine cycles and synthesis of sphingolipids, phospholipids, and sulphur containing amino acids. A hydroxyl side-chain of L-serine contributes to polarity of proteins, and serves as a primary site for binding a phosphate group to regulate protein function. D-serine, its D-isoform, has a unique role. Recent studies indicate increased requirements for L-serine and its potential therapeutic use in some diseases. L-serine deficiency is associated with impaired function of the nervous system, primarily due to abnormal metabolism of phospholipids and sphingolipids, particularly increased synthesis of deoxysphingolipids. Therapeutic benefits of L-serine have been reported in primary disorders of serine metabolism, diabetic neuropathy, hyperhomocysteinemia, and amyotrophic lateral sclerosis. Use of L-serine and its metabolic products, specifically D-serine and phosphatidylserine, has been investigated for the therapy of renal diseases, central nervous system injury, and in a wide range of neurological and psychiatric disorders. It is concluded that there are disorders in which humans cannot synthesize L-serine in sufficient quantities, that L-serine is effective in therapy of disorders associated with its deficiency, and that L-serine should be classified as a “conditionally essential” amino acid.
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Maltsev, S. V., V. M. Davydova, and E. I. Zemlyakova. "Clinic and diagnosis of metabolic nephropathies in children." Kazan medical journal 67, no. 5 (September 15, 1986): 358–60. http://dx.doi.org/10.17816/kazmj70701.
Abstract:
We examined 70 patients with metabolic nephropathy (51 with oxaluria predominance, 19 with uric acid metabolism disorders). Distribution of patients into groups was carried out according to the results of multistage research, including analysis of pedigree; repeated biochemical studies, clinical and radiological comparisons. Endogenous creatinine clearance, residual nitrogen level, urea in blood, acid-base balance were determined to characterize the functional state of the kidneys. Renal tubular function was assessed by urinary excretion of calcium, phosphates, amino acids, titratable acids, Zimnitsky's test. To detect metabolic disorders we studied uric acid content in blood and urine, oxalic acid and xanthurenic acid content in daily urine.
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Blaauwendraad, Sophia M., Rama J. Wahab, Bas B. van Rijn, Berthold Koletzko, Vincent W. V. Jaddoe, and Romy Gaillard. "Associations of Early Pregnancy Metabolite Profiles with Gestational Blood Pressure Development." Metabolites 12, no. 12 (November 24, 2022): 1169. http://dx.doi.org/10.3390/metabo12121169.
Abstract:
Blood pressure development plays a major role in both the etiology and prediction of gestational hypertensive disorders. Metabolomics might serve as a tool to identify underlying metabolic mechanisms in the etiology of hypertension in pregnancy and lead to the identification of novel metabolites useful for the prediction of gestational hypertensive disorders. In a population-based, prospective cohort study among 803 pregnant women, liquid chromatography—mass spectrometry was used to determine serum concentrations of amino-acids, non-esterified fatty acids, phospholipids and carnitines in early pregnancy. Blood pressure was measured in each trimester of pregnancy. Information on gestational hypertensive disorders was obtained from medical records. Higher individual metabolite concentrations of the diacyl-phosphatidylcholines and acyl-lysophosphatidylcholines group were associated with higher systolic blood pressure throughout pregnancy (Federal Discovery Rate (FDR)-adjusted p-values < 0.05). Higher concentrations of one non-esterified fatty acid were associated with higher diastolic blood pressure throughout pregnancy (FDR-adjusted p-value < 0.05). Using penalized regression, we identified 12 individual early-pregnancy amino-acids, non-esterified fatty acids, diacyl-phosphatidylcholines and acyl-carnitines and the glutamine/glutamic acid ratio, that were jointly associated with larger changes in systolic and diastolic blood pressure from first to third trimester. These metabolites did not improve the prediction of gestational hypertensive disorders in addition to clinical markers. In conclusion, altered early pregnancy serum metabolite profiles mainly characterized by changes in non-esterified fatty acids and phospholipids metabolites are associated with higher gestational blood pressure throughout pregnancy within the physiological ranges. These findings are important from an etiological perspective and, after further replication, might improve the early identification of women at increased risk of gestational hypertensive disorders.
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Juárez-Flores, Diana Luz, Mario Ezquerra, ïngrid Gonzàlez-Casacuberta, Aida Ormazabal, Constanza Morén, Eduardo Tolosa, Raquel Fucho, et al. "Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus." Antioxidants 9, no. 11 (October 30, 2020): 1063. http://dx.doi.org/10.3390/antiox9111063.
Abstract:
Idiopathic Parkinson’s disease (iPD) and type 2 diabetes mellitus (T2DM) are chronic, multisystemic, and degenerative diseases associated with aging, with eventual epidemiological co-morbidity and overlap in molecular basis. This study aims to explore if metabolic and mitochondrial alterations underlie the previously reported epidemiologic and clinical co-morbidity from a molecular level. To evaluate the adaptation of iPD to a simulated pre-diabetogenic state, we exposed primary cultured fibroblasts from iPD patients and controls to standard (5 mM) and high (25 mM) glucose concentrations to further characterize metabolic and mitochondrial resilience. iPD fibroblasts showed increased organic and amino acid levels related to mitochondrial metabolism with respect to controls, and these differences were enhanced in high glucose conditions (citric, suberic, and sebacic acids levels increased, as well as alanine, glutamate, aspartate, arginine, and ornithine amino acids; p-values between 0.001 and 0.05). The accumulation of metabolites in iPD fibroblasts was associated with (and probably due to) the concomitant mitochondrial dysfunction observed at enzymatic, oxidative, respiratory, and morphologic level. Metabolic and mitochondrial plasticity of controls was not observed in iPD fibroblasts, which were unable to adapt to different glucose conditions. Impaired metabolism and mitochondrial activity in iPD may limit energy supply for cell survival. Moreover, reduced capacity to adapt to disrupted glucose balance characteristic of T2DM may underlay the co-morbidity between both diseases. Conclusions: Fibroblasts from iPD patients showed mitochondrial impairment, resulting in the accumulation of organic and amino acids related to mitochondrial metabolism, especially when exposed to high glucose. Mitochondrial and metabolic defects down warding cell plasticity to adapt to changing glucose bioavailability may explain the comorbidity between iPD and T2DM.
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De Meirleir, Linda. "Defects of Pyruvate Metabolism and the Krebs Cycle." Journal of Child Neurology 17, no. 3_suppl (December 2002): 26–34. http://dx.doi.org/10.1177/088307380201703s01.
Abstract:
Seizures and metabolic disease are frequently associated, either indirectly as a consequence of the metabolically caused brain dysgenesis or directly by the metabolic derangement. This article describes defects in pyruvate metabolism (pyruvate carboxylase deficiency, pyruvate dehydrogenase deficiency) and Krebs cycle defects such as fumarase deficiency. Clinical characterizations and diagnostic strategies have been developed for each of these diseases. In contrast, very little is known about the specific epileptic features in these disorders. In females with a pyruvate dehydrogenase deficiency E1α owing to the mutation in the subunit E1α of the pyruvate dehydrogenase complex West's syndrome associated with large ventricles and corpus callosum agenesis on magnetic resonance imaging can be the main feature of the disease. In fumarase deficiency, prenatal brain dysgenesis is the most prominent feature of the disease. Diagnosis of these disorders requires measurements of lactate and pyruvate in plasma and cerebrospinal fluid, analysis of amino acids in plasma and organic acids in urine, and neuroradiologic investigations. Further biochemical and molecular analysis leads to a definitive diagnosis and opens the way to adequate treatment, genetic counseling, and prenatal diagnosis. (J Child Neurol 2002;17(Suppl 3):3S26–3S34).
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Strutinschi, T., Ion Mereuta, V. Caraus, V. Dubcenco, Lilia Poleacova, V. Fedas, I. Gutium, and V. Gutium. "The mechanism of metabolic disorders in COVID-19 and possible ways of prevention." Bulletin of the Academy of Sciences of Moldova. Medical Sciences, no. 2(73) (November 2022): 158–68. http://dx.doi.org/10.52692/1857-0011.2022.2-73.26.
Abstract:
The article presents the results of studies on the effect of COVID-19 on protein metabolism and, in particular, immunoactive amino acids, as well as glutathione, which reflects the antioxidant potential of the body. The possibility of using dietary supplements to increase the activity of the immune system and its resistance against coronavirus infection, both in preventive measures and as an additional element in medical procedures during the SARS-CoV-2 pandemic, has been shown.
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Ancu, Oana, Monika Mickute, Nicola D. Guess, Nicholas M. Hurren, Nicholas A. Burd, and Richard W. Mackenzie. "Does high dietary protein intake contribute to the increased risk of developing prediabetes and type 2 diabetes?" Applied Physiology, Nutrition, and Metabolism 46, no. 1 (January 2021): 1–9. http://dx.doi.org/10.1139/apnm-2020-0396.
Abstract:
Insulin resistance is a complex metabolic disorder implicated in the development of many chronic diseases. While it is generally accepted that body mass loss should be the primary approach for the management of insulin resistance-related disorders in overweight and obese individuals, there is no consensus among researchers regarding optimal protein intake during dietary restriction. Recently, it has been suggested that increased plasma branched-chain amino acids concentrations are associated with the development of insulin resistance and type 2 diabetes. The exact mechanism by which excessive amino acid availability may contribute to insulin resistance has not been fully investigated. However, it has been hypothesised that mammalian target of rapamycin (mTOR) complex 1 hyperactivation in the presence of amino acid overload contributes to reduced insulin-stimulated glucose uptake because of insulin receptor substrate (IRS) degradation and reduced Akt-AS160 activity. In addition, the long-term effects of high-protein diets on insulin sensitivity during both weight-stable and weight-loss conditions require more research. This review focusses on the effects of high-protein diets on insulin sensitivity and discusses the potential mechanisms by which dietary amino acids can affect insulin signalling. Novelty: Excess amino acids may over-activate mTOR, resulting in desensitisation of IRS-1 and reduced insulin-mediated glucose uptake.
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Boenzi, Sara, and Daria Diodato. "Biomarkers for mitochondrial energy metabolism diseases." Essays in Biochemistry 62, no. 3 (July 6, 2018): 443–54. http://dx.doi.org/10.1042/ebc20170111.
Abstract:
Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a ‘biosignature’ for the diagnosis, rather than a single biochemical marker. Serum biomarkers like lactate and pyruvate are largely determined in the diagnostic algorithm of MD, but they are not specific to this group of disorders. The concomitant determination of creatine (Cr), plasma amino acids, and urine organic acids might be helpful to reinforce the biosignature in some cases. In recent studies, serum fibroblast growth factor 21 (sFGF21) and serum growth differentiation factor 15 (sGDF15) appear to be promising molecules in identifying MD. Moreover, new different approaches have been developed to discover new MD biomarkers. This work discusses the most important biomarkers currently used in the diagnosis of MRC diseases, and some approaches under evaluation, discussing both their utility and weaknesses.
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Sokolova, Iryna I., Olena H. Yaroshenko, Svitlana I. Herman, Tetiana V. Tomilina, Karyna V. Skydan, and Maxym I. Skydan. "FEATURES OF DENTAL STATUS AND METABOLISM IN CHILDREN WITH EARLY CHILDHOOD CARIES AGAINST THE BACKGROUND OF CONNECTIVE TISSUE DYSPLASIA." Wiadomości Lekarskie 74, no. 10 (2021): 2503–9. http://dx.doi.org/10.36740/wlek202110125.
Abstract:
The aim: To assess the dental status of infants suffering from connective tissue dysplasia, with the analysis of some aspects of hydrocarbon and amino acid metabolism (blood, urine) and internal organs status. Materials and methods: 81 infants (aged 14 – 36 months) with multiple dental caries were examined. Among them 39 infants were suffered from connective tissue dysplasia. Results: High prevalence of caries in infants against the background of connective tissue dysplasia compared to their peers in the control group (p <0.05) is established: the caries intensity index and the caries intensity growth index are high in all age groups. Disorders of amino acid and carbohydrate metabolism were observed in infants of the main group. Thus, simultaneous increase of amino acids in the blood and urine was observed in 34 children of the main group in different age groups, and simultaneous increase of amino acids in the blood and urine and carbohydrates in the urine was observed in 25 children in different age groups. In infants of the main group the ultrasound examination of abdominal organs revealed changes in the liver, gallbladder, spleen, pancreas and kidneys. Conclusions: When carrying out endogenous prophylaxis of dental caries in infants with connective tissue dysplasia, it is necessary to take into account the internal organs’ status and thin-layer chromatography data of amino acids and carbohydrates in the blood and urine and to prescribe peroral drugs together with the doctors geneticists.
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Wasyluk, Weronika, and Agnieszka Zwolak. "Metabolic Alterations in Sepsis." Journal of Clinical Medicine 10, no. 11 (May 29, 2021): 2412. http://dx.doi.org/10.3390/jcm10112412.
Abstract:
Sepsis is defined as “life-threatening organ dysfunction caused by a dysregulated host response to infection”. Contrary to the older definitions, the current one not only focuses on inflammation, but points to systemic disturbances in homeostasis, including metabolism. Sepsis leads to sepsis-induced dysfunction and mitochondrial damage, which is suggested as a major cause of cell metabolism disorders in these patients. The changes affect the metabolism of all macronutrients. The metabolism of all macronutrients is altered. A characteristic change in carbohydrate metabolism is the intensification of glycolysis, which in combination with the failure of entering pyruvate to the tricarboxylic acid cycle increases the formation of lactate. Sepsis also affects lipid metabolism—lipolysis in adipose tissue is upregulated, which leads to an increase in the level of fatty acids and triglycerides in the blood. At the same time, their use is disturbed, which may result in the accumulation of lipids and their toxic metabolites. Changes in the metabolism of ketone bodies and amino acids have also been described. Metabolic disorders in sepsis are an important area of research, both for their potential role as a target for future therapies (metabolic resuscitation) and for optimizing the current treatment, such as clinical nutrition.
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Thoman, Maxton E., and Susan C. McKarns. "Metabolomic Profiling in Neuromyelitis Optica Spectrum Disorder Biomarker Discovery." Metabolites 10, no. 9 (September 18, 2020): 374. http://dx.doi.org/10.3390/metabo10090374.
Abstract:
There is no specific test for diagnosing neuromyelitis optica spectrum disorder (NMOSD), a disabling autoimmune disease of the central nervous system. Instead, diagnosis relies on ruling out other related disorders with overlapping clinical symptoms. An urgency for NMOSD biomarker discovery is underscored by adverse responses to treatment following misdiagnosis and poor prognosis following the delayed onset of treatment. Pathogenic autoantibiotics that target the water channel aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) contribute to NMOSD pathology. The importance of early diagnosis between AQP4-Ab+ NMOSD, MOG-Ab+ NMOSD, AQP4-Ab− MOG-Ab− NMOSD, and related disorders cannot be overemphasized. Here, we provide a comprehensive data collection and analysis of the currently known metabolomic perturbations and related proteomic outcomes of NMOSD. We highlight short chain fatty acids, lipoproteins, amino acids, and lactate as candidate diagnostic biomarkers. Although the application of metabolomic profiling to individual NMOSD patient care shows promise, more research is needed.
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Coppola, Anna, Brett R. Wenner, Olga Ilkayeva, Robert D. Stevens, Mauro Maggioni, Theodore A. Slotkin, Edward D. Levin, and Christopher B. Newgard. "Branched-chain amino acids alter neurobehavioral function in rats." American Journal of Physiology-Endocrinology and Metabolism 304, no. 4 (February 15, 2013): E405—E413. http://dx.doi.org/10.1152/ajpendo.00373.2012.
Abstract:
Recently, we have described a strong association of branched-chain amino acids (BCAA) and aromatic amino acids (AAA) with obesity and insulin resistance. In the current study, we have investigated the potential impact of BCAA on behavioral functions. We demonstrate that supplementation of either a high-sucrose or a high-fat diet with BCAA induces anxiety-like behavior in rats compared with control groups fed on unsupplemented diets. These behavioral changes are associated with a significant decrease in the concentration of tryptophan (Trp) in brain tissues and a consequent decrease in serotonin but no difference in indices of serotonin synaptic function. The anxiety-like behaviors and decreased levels of Trp in the brain of BCAA-fed rats were reversed by supplementation of Trp in the drinking water but not by administration of fluoxetine, a selective serotonin reuptake inhibitor, suggesting that the behavioral changes are independent of the serotonergic pathway of Trp metabolism. Instead, BCAA supplementation lowers the brain levels of another Trp-derived metabolite, kynurenic acid, and these levels are normalized by Trp supplementation. We conclude that supplementation of high-energy diets with BCAA causes neurobehavioral impairment. Since BCAA are elevated spontaneously in human obesity, our studies suggest a potential mechanism for explaining the strong association of obesity and mood disorders.
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Solís-Ortiz, Silvia, Virginia Arriaga-Avila, Aurora Trejo-Bahena, and Rosalinda Guevara-Guzmán. "Deficiency in the Essential Amino Acids l-Isoleucine, l-Leucine and l-Histidine and Clinical Measures as Predictors of Moderate Depression in Elderly Women: A Discriminant Analysis Study." Nutrients 13, no. 11 (October 29, 2021): 3875. http://dx.doi.org/10.3390/nu13113875.
Abstract:
Increases in depression are common in some elderly women. Elderly women often show moderate depressive symptoms, while others display minimal depressive symptoms. These discrepancies have produced contradictory and inconclusive outcomes, which have not been explained entirely by deficits in neurotransmitter precursors. Deficiency in some amino acids have been implicated in major depression, but its role in non-clinical elderly women is not well known. An analysis of essential amino acids, depression and the use of discriminant analysis can help to clarify the variation in depressive symptoms exhibited by some elderly women. The aim was to investigate the relationship of essential amino acids with affective, cognitive and comorbidity measures in elderly women without major depression nor severe mood disorders or psychosis, specifically thirty-six with moderate depressive symptoms and seventy-one with minimal depressive symptoms. The plasma concentrations of nineteen amino acids, Beck Depression Inventory (BDI) scores, Geriatric Depression Scale (GDS) scores, global cognitive scores and comorbidities were submitted to stepwise discriminant analysis to identify predictor variables. Seven predictors arose as important for belong to the group based on amino acid concentrations, with the moderate depressive symptoms group characterized by higher BDI, GDS and cognitive scores; fewer comorbidities; and lower levels of l-histidine, l-isoleucine and l-leucine. These findings suggest that elderly women classified as having moderate depressive symptoms displayed a deficiency in essential amino acids involved in metabolism, protein synthesis, inflammation and neurotransmission.
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Bell, Alan W., and Richard A. Ehrhardt. "Regulation of placental nutrient transport and implications for fetal growth." Nutrition Research Reviews 15, no. 2 (December 2002): 211–30. http://dx.doi.org/10.1079/nrr200239.
Abstract:
AbstractFetal macronutrient requirements for oxidative metabolism and growth are met by placental transport of glucose, amino acids, and, to a lesser extent that varies with species, fatty acids. It is becoming possible to relate the maternal–fetal transport kinetics of these molecules in vivo to the expression and distribution of specific transporters among placental cell types and subcellular membrane fractions. This is most true for glucose transport, although apparent inconsistencies among data on the roles and relative importance of the predominant placenta glucose transporters, GLUT-1 and GLUT-3, remain to be resolved. The quantity of macronutrients transferred to the fetus from the maternal bloodstream is greatly influenced by placental metabolism, which results in net consumption of large amounts of glucose and, to a lesser extent, amino acids. The pattern of fetal nutrient supply is also altered considerably by placental conversion of glucose to lactate and, in some species, fructose, and extensive transamination of amino acids. Placental capacity for transport of glucose and amino acids increases with fetal demand as gestation advances through expansion of the exchange surface area and increased expression of specific transport molecules. In late pregnancy, transport capacity is closely related to placental size and can be modified by maternal nutrition. Preliminary evidence suggests that placental expression and function of specific transport proteins are influenced by extracellular concentrations of nutrients and endocrine factors, but, in general, the humoral regulation of placental capacity for nutrient transport is poorly understood. Consequences of normal and abnormal development of placental transport functions for fetal growth, especially during late gestation, and, possibly, for fetal programming of postnatal disorders, are discussed.
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Shayakhmetova, Ganna M., Larysa B. Bondarenko, Anatoliy V. Matvienko, and Valentina M. Kovalenko. "Chronic alcoholism-mediated metabolic disorders in albino rat testes." Interdisciplinary Toxicology 7, no. 3 (September 1, 2014): 165–72. http://dx.doi.org/10.2478/intox-2014-0023.
Abstract:
ABSTRACT There is good evidence for impairment of spermatogenesis and reductions in sperm counts and testosterone levels in chronic alcoholics. The mechanisms for these effects have not yet been studied in detail. The consequences of chronic alcohol consumption on the structure and/or metabolism of testis cell macromolecules require to be intensively investigated. The present work reports the effects of chronic alcoholism on contents of free amino acids, levels of cytochrome P450 3A2 (CYP3A2) mRNA expression and DNA fragmentation, as well as on contents of different cholesterol fractions and protein thiol groups in rat testes. Wistar albino male rats were divided into two groups: I - control (intact animals), II - chronic alcoholism (15% ethanol self-administration during 150 days). Following 150 days of alcohol consumption, testicular free amino acid content was found to be significantly changed as compared with control. The most profound changes were registered for contents of lysine (-53%) and methionine (+133%). The intensity of DNA fragmentation in alcohol-treated rat testes was considerably increased, on the contrary CYP3A2 mRNA expression in testis cells was inhibited, testicular contents of total and etherified cholesterol increased by 25% and 45% respectively, and protein SH-groups decreased by 13%. Multidirectional changes of the activities of testicular dehydrogenases were detected. We thus obtained complex assessment of chronic alcoholism effects in male gonads, affecting especially amino acid, protein, ATP and NADPH metabolism. Our results demonstrated profound changes in testes on the level of proteome and genome. We suggest that the revealed metabolic disorders can have negative implication on cellular regulation of spermatogenesis under long-term ethanol exposure.
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She, Jianqing, Manyun Guo, Hongbing Li, Junhui Liu, Xiao Liang, Peining Liu, Bo Zhou, et al. "Targeting amino acids metabolic profile to identify novel metabolic characteristics in atrial fibrillation." Clinical Science 132, no. 19 (October 5, 2018): 2135–46. http://dx.doi.org/10.1042/cs20180247.
Abstract:
Background: Atrial fibrillation (AF) is the most common cardiac arrhythmia whose incidence is on the rise globally. However, the pathophysiologic mechanism of AF remains poorly understood and there has been a lack of circulatory markers to diagnose and predict prognosis of AF. In the present study, by measuring metabolic profile and analyzing plasma amino acid levels in AF patients, we sought to determine whether amino acid metabolism was correlated to the occurrence of AF. Methods: Consecutive patients admitted to hospital for AF were enrolled. Plasma samples were obtained after overnight fast and a profile of 61 amino acids was then measured using gas chromatography/mass spectrometry (GC/MS). Results: Twenty-three AF and thirty-seven control patients were enrolled in the study. A number of plasma amino acids were altered in AF, which showed significant prediction value for AF. Intriguingly, circulating 4-hydroxypyrrolidine-2-carboxylic was gradually lowered with the persistence of AF. Plasma amino acid levels were more strongly correlated with each other in AF as compared with control. Conclusion: By utilizing non-target metabolic profile surveys, we have found a number of altered amino acids, which exhibit diagnostic value for AF. Enhanced amino acids correlation network further identified AF as a metabolism disorder.
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Polidori, Nella, Eleonora Agata Grasso, Francesco Chiarelli, and Cosimo Giannini. "Amino Acid-Related Metabolic Signature in Obese Children and Adolescents." Nutrients 14, no. 7 (March 30, 2022): 1454. http://dx.doi.org/10.3390/nu14071454.
Abstract:
The growing interest in metabolomics has spread to the search for suitable predictive biomarkers for complications related to the emerging issue of pediatric obesity and its related cardiovascular risk and metabolic alteration. Indeed, several studies have investigated the association between metabolic disorders and amino acids, in particular branched-chain amino acids (BCAAs). We have performed a revision of the literature to assess the role of BCAAs in children and adolescents’ metabolism, focusing on the molecular pathways involved. We searched on Pubmed/Medline, including articles published until February 2022. The results have shown that plasmatic levels of BCAAs are impaired already in obese children and adolescents. The relationship between BCAAs, obesity and the related metabolic disorders is explained on one side by the activation of the mTORC1 complex—that may promote insulin resistance—and on the other, by the accumulation of toxic metabolites, which may lead to mitochondrial dysfunction, stress kinase activation and damage of pancreatic cells. These compounds may help in the precocious identification of many complications of pediatric obesity. However, further studies are still needed to better assess if BCAAs may be used to screen these conditions and if any other metabolomic compound may be useful to achieve this goal.