Thematische Bibliographien / Acute hepatic porphyrias

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Auswahl der wissenschaftlichen Literatur zum Thema „Acute hepatic porphyrias“

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Veröffentlicht am 29. März 2025

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Zeitschriftenartikel zum Thema "Acute hepatic porphyrias"

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Balwani, Manisha, und Robert J. Desnick. „The porphyrias: advances in diagnosis and treatment“. Hematology 2012, Nr. 1 (08.12.2012): 19–27. http://dx.doi.org/10.1182/asheducation.v2012.1.19.3795678.

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Abstract The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as “acute hepatic,” “hepatic cutaneous,” and “erythropoietic cutaneous” diseases. Recent advances in understanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and treatment. These advances include DNA-based diagnoses for all the porphyrias, new understanding of the pathogenesis of the acute hepatic porphyrias, identification of the iron overload-induced inhibitor of hepatic uroporphyrin decarboxylase activity that causes the most common porphyria, porphyria cutanea tarda, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in erythroid-specific 5-aminolevulinate synthase (ALAS2), and new and experimental treatments for the erythropoietic prophyrias. Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. These developments are reviewed to update hematologists on the latest advances in these diverse disorders.
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Balwani, Manisha, und Robert J. Desnick. „The porphyrias: advances in diagnosis and treatment“. Blood 120, Nr. 23 (29.11.2012): 4496–504. http://dx.doi.org/10.1182/blood-2012-05-423186.

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Abstract The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as “acute hepatic,” “hepatic cutaneous,” and “erythropoietic cutaneous” diseases. Recent advances in understanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and treatment. These advances include DNA-based diagnoses for all the porphyrias, new understanding of the pathogenesis of the acute hepatic porphyrias, identification of the iron overload-induced inhibitor of hepatic uroporphyrin decarboxylase activity that causes the most common porphyria, porphyria cutanea tarda, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in erythroid-specific 5-aminolevulinate synthase (ALAS2), and new and experimental treatments for the erythropoietic prophyrias. Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. These developments are reviewed to update hematologists on the latest advances in these diverse disorders.
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Ricci, Andrea, Claudio Carmine Guida, Paola Manzini, Chiara Cuoghi und Paolo Ventura. „Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications“. Diagnostics 11, Nr. 12 (10.12.2021): 2324. http://dx.doi.org/10.3390/diagnostics11122324.

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Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures. The most dramatic presentation of the four congenital acute hepatic porphyrias (AHPs: acute intermittent porphyria—AIP, ALAD deficiency, hereditary coproporphyria—HCP, and porphyria variegata—VP) consists of potentially life-threatening neurovisceral attacks, for which givosiran, a novel and effective siRNA-based therapeutic, has recently been licensed. Nonetheless, the clinical manifestations of acute porphyrias are multifaceted and do not limit themselves to acute attacks. In particular, porphyria-associated kidney disease (PAKD) is a distinct, long-term degenerating condition with specific pathological and clinical features, for which a satisfactory treatment is not available yet. In PAKD, chronic tubule-interstitial damage has been most commonly reported, though other pathologic features (e.g., chronic fibrous intimal hyperplasia) are consistent findings. Given the relevant role of the kidney in porphyrin metabolism, the mechanisms possibly intervening in causing renal damage in AHPs are different: among others, δ-aminolevulinic acid (ALA)-induced oxidative damage on mitochondria, intracellular toxic aggregation of porphyrins in proximal tubular cells, and derangements in the delicate microcirculatory balances of the kidney might be implicated. The presence of a variant of the human peptide transporter 2 (PEPT2), with a greater affinity to its substrates (including ALA), might confer a greater susceptibility to kidney damage in patients with AHPs. Furthermore, a possible effect of givosiran in worsening kidney function has been observed. In sum, the diagnostic workup of AHPs should always include a baseline evaluation of renal function, and periodic monitoring of the progression of kidney disease in patients with AHPs is strongly recommended. This review outlines the role of the kidney in porphyrin metabolism, the available evidence in support of the current etiologic and pathogenetic hypotheses, and the known clinical features of renal involvement in acute hepatic porphyrias.
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Erwin, Angelika L., und Manisha Balwani. „Porphyrias in the Age of Targeted Therapies“. Diagnostics 11, Nr. 10 (29.09.2021): 1795. http://dx.doi.org/10.3390/diagnostics11101795.

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The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as well as the chemical characteristics of the accumulating substances, the clinical features of different porphyrias vary substantially. Heme precursors are neurotoxic, and their accumulation results in acute hepatic porphyria, while porphyrins are photoactive, and excess amounts cause cutaneous porphyrias, which present with photosensitivity. These disorders are clinically heterogeneous but can result in severe clinical manifestations, long-term complications and a significantly diminished quality of life. Medical management consists mostly of the avoidance of triggering factors and symptomatic treatment. With an improved understanding of the underlying pathophysiology and disease mechanisms, new treatment approaches have become available, which address the underlying defects at a molecular or cellular level, and promise significant improvement, symptom prevention and more effective treatment of acute and chronic disease manifestations.
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Bonkovsky, Herbert L. „Neurovisceral Porphyrias: What a Hematologist Needs to Know“. Hematology 2005, Nr. 1 (01.01.2005): 24–30. http://dx.doi.org/10.1182/asheducation-2005.1.24.

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Abstract The acute or inducible hepatic porphyrias comprise four inherited disorders of heme biosynthesis. They usually remain asymptomatic for most of the lifespan of individuals who inherit the specific enzyme deficiencies but may cause life-threatening attacks of neurovisceral symptoms. Failure to consider the diagnosis frequently delays effective treatment, and inappropriate diagnostic tests and/or mistaken interpretation of results may lead to misdiagnosis and inappropriate treatment. The four disorders are ALA dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Other conditions that clinically and biochemically may mimic acute porphyria include lead poisoning and hereditary tyrosinemia type I. The diagnosis of one of these acute porphyric syndromes should be considered in many patients with otherwise unexplained abdominal pain, severe constipation, systemic arterial hypertension, or other characteristic symptoms. Critical to the rapid diagnosis of the three most common of these disorders is demonstration of markedly increased urinary porphobilinogen (PBG) in a single-void urine specimen. The treatment of choice for all but mild attacks of the acute porphyrias is intravenous hemin therapy, which should be started as soon as possible. Intravenous glucose alone is recommended only for mild attacks (no weakness or hyponatremia) or until hemin is available.
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Czekaj, Aleksandra, Kinga Ruszel, Robert Dubel, Julia Dubel und Natalia Namroży. „Acute hepatic porphyria - classification, diagnosis and treatment“. Journal of Education, Health and Sport 13, Nr. 1 (25.11.2022): 117–22. http://dx.doi.org/10.12775/jehs.2023.13.01.019.

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Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway. The literature distinguishes between: Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP) and Aminolevulinic Dehydratic ADP (ADP) deficiency. -deficient Porphyria). Deficiency of individual enzymes leads to ineffective heme production and accumulation of neurotoxic intermediates - the so-called porphyrins. Two excess metabolites are of major importance in diagnostics - ALA (amionolevulinic acid) and PBG (porphobilinogen). In most cases, the activity of the less functional enzyme is so high that the disease never becomes apparent (latent form). Excessive accumulation of porphyrin precursors is associated with exposure to porphyrinogenic factors, leading to a seizure whose symptoms are closely related to autonomic, peripheral neuropathy, and accompanying neuropsychiatric disorders. In diagnostics, particular attention should be paid to the circumstances of the symptoms and the history of the patient's disease, which often includes numerous episodes of unexplained abdominal pain, which was so severe that it forced the patient to report to emergency departments. A severe attack of porphyria is a medical emergency and requires hospitalization. Failure to diagnose or properly treat it may result in flaccid tetraplegia, respiratory failure, brain edema, coma, and sudden circulation detention.
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Trier, Henry, Vikram P. Krishnasamy und Pashtoon Murtaza Kasi. „Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias“. Case Reports in Hematology 2013 (2013): 1–6. http://dx.doi.org/10.1155/2013/628602.

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The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency. The diagnosis of acute porphyrias, however, can be very challenging due to overlapping features amongst the various types. Initial suspicion is based on a myriad of clinical manifestations, which then are confirmed by laboratory testing where available. Genetic testing is now also available for the different types of porphyrias, aiding in the definitive diagnosis. Here, we present a challenging case of porphyria in a patient with end-stage renal disease and present the diagnostic challenges associated with the case and the ways forward.
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Wang, Bruce. „The acute hepatic porphyrias“. Translational Gastroenterology and Hepatology 6 (April 2021): 24. http://dx.doi.org/10.21037/tgh-2020-01.

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Wang, Bruce. „The acute hepatic porphyrias“. Translational Gastroenterology and Hepatology 6 (April 2021): 24. http://dx.doi.org/10.21037/tgh-2019-rld-05.

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Dwyer, Barney E., Meghan L. Stone, Xiongwei Zhu, George Perry und Mark A. Smith. „Heme Deficiency in Alzheimer’s Disease: A Possible Connection to Porphyria“. Journal of Biomedicine and Biotechnology 2006 (2006): 1–5. http://dx.doi.org/10.1155/jbb/2006/24038.

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Mechanisms that cause Alzheimer’s disease (AD), an invariably fatal neurodegenerative disease, are unknown. Important recent data indicate that neuronal heme deficiency may contribute to AD pathogenesis. If true, factors that contribute to the intracellular heme deficiency could potentially alter the course of AD. The porphyrias are metabolic disorders characterized by enzyme deficiencies in the heme biosynthetic pathway. We hypothesize that AD may differ significantly in individuals possessing the genetic trait for an acute hepatic porphyria. We elaborate on this hypothesis and briefly review the characteristics of the acute hepatic porphyrias that may be relevant to AD. We note the proximity of genes encoding enzymes of the heme biosynthesis pathway to genetic loci linked to sporadic, late-onset AD. In addition, we suggest that identification of individuals carrying the genetic trait for acute porphyria may provide a unique resource for investigating AD pathogenesis and inform treatment and management decisions.
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Dissertationen zum Thema "Acute hepatic porphyrias"

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Laiwah, Albert A. C. Yeung. „Studies on the acute hepatic porphyrias“. Thesis, University of Glasgow, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.329531.

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Fiorentino, V. „CHARACTERIZATION OF THE FUNCTIONAL ROLE OF NEW VARIANTS INVOLVED IN VARIEGATE PORPHYRIA AND HIPSC DERIVED HEPATOCYTE LIKE CELLS TO MODEL HEPATIC PORPHYRIAS“. Doctoral thesis, Università degli Studi di Milano, 2018. http://hdl.handle.net/2434/544570.

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Porphyrias are a group of inherited metabolic disorders of heme biosynthesis. Each porphyria derives from an alteration in the heme biosynthetic pathway resulting in a specific accumulation of heme precursors. These rare diseases are characterized by an extended heterogeneity of mutations affecting the coding region of the genes directly or indirectly involved in the pathway. In this study, we assessed three new variants identified in the regulatory regions of the PPOX gene using human hepatocarcinoma (Hep3B) and erythroleukemia (K562) cell lines. We demonstrated a lower expression of the PPOX gene through luciferase assays and RNA analysis for the c.1-883G>C promoter mutant and we suggested a post-transcriptional role for the c.1-413G>T and c.1-176G>A variants in the 5′ UTR of PPOX mRNA variant 2. Transfection experiments of mutant -413T reporter plasmid indicate that this variant inhibits translation of the downstream firefly luciferase mRNA. In fact, the reduced firefly luciferase activity did not correlate with the proportional reduction in firefly luciferase mRNA expression. Normal values of PPOX mRNA level validated with Digital PCR in the patient carrying the c.1-413G>T substitution support this evidence. Data for the c.1-176G>A variant show a possible role in the spicing regulation for it. The qualitative RNA analysis confirms that this variant is involved in the alteration of the normal splicing between exon 1 and exon 2 of PPOX due to a 4 bp deletions in exon 1. The relation between these post-transcriptional alterations and the variegate porphyria remains to be investigated. These results suggest that the regulatory regions have to be considered in the diagnostic process but more studies are required to clarify their role in the disease. To model hepatic porphyrias, we derived hepatocyte-like cells from hiPSC generated from blood of two patients affected by acute intermittent porphyria, a hepatic porphyria. We hypothesized that this can serve as an in vitro model to study different pathways linked with acute intermittent porphyria. The data suggest a general comparable profile of the heme biosynthec pathway between hiPSC-HLC and primary hepatocytes. Although some immature features, probably linked with the in vitro condition, could directly or indirectly affect the metabolism network links with hepatic porphyrias, now hiPSC-HLCs are one of the most useful model available for hepatic diseases. The patient derived hepatocyte-like cells showed a basal overexpression of ALAS1 and its regulator PPARA and PGC1A with induction of oxidative damage response genes. Moreover, the induction of ketogenetic and lipid metabolic genes highlighted a different metabolic profile in the acute intermittent porphyria patient lines. The in vitro simulation of acute attack mediated by ALA administration, one of the principal compound accumulated during the attack, showed a negative feedback regulation on ALAS1 with massive induction of HMOX1 in the control cell line. On the other hand, phenobarbital response in control line suggested the link between cholesterol synthesis and gluconeogenesis with the heme biosynthetic pathway. The drug metabolism in fact, induces the heme biosynthetic pathway through ALAS1, and this gene results constantly overexpressed in the derived patient cell lines. In conclusion, this study focus the attention on the importance of the regulatory regions in the diagnostic process of porphyrias and supply an alternative in vitro model to study the metabolic alterations linked with porphyrias. Further experiments are required to better understand the direct effect of alteration in the regulatory regions of porphyria genes and are necessary to analyse the involvement of different pathways in the onset of the disease.
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Poli, Antoine. „Physiopathologie des porphyries : développement de méthodes d'analyses par spectrométrie de masse et application en contexte clinique, biodisponibilité du fer et porphyries érythropoïétiques : efficacité clinique de l'induction d'une carence martiale et caractérisation d'un modèle cellulaire“. Electronic Thesis or Diss., Université Paris Cité, 2024. http://www.theses.fr/2024UNIP5206.

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Les porphyries sont des maladies génétiques causées par une dysfonction d'une enzyme de la voie de biosynthèse de l'hème responsable de l'accumulation de métabolites toxiques. On distingue les porphyries d'origine hépatique, où l'hème est le principal régulateur de sa synthèse, des porphyries érythropoïétiques, où c'est la biodisponibilité du fer qui est le déterminant majeur de la synthèse d'hème. Lors de ce travail, des méthodes de dosages par spectrométrie de masse ont été développées afin de mieux caractériser la physiopathologie des porphyries. En premier lieu, le dosage des précurseurs de la voie, l'ALA et le PBG, dans le sang et les urines, qui a ensuite été appliqué au diagnostic et à l'amélioration du suivi de patients atteints de porphyrie hépatique aiguë. Dans une deuxième partie, ce travail s'est intéressé au lien entre métabolisme du fer et porphyrie érythropoïétique. Il a démontré l'efficacité biologique et clinique de l'induction d'une carence martiale chez des patients atteints de porphyrie érythropoïétique. L'étude de culture primaire de progéniteurs érythroïdes de patients a confirmé l'impact des variations de la biodisponibilité du fer sur l'accumulation des porphyrines toxiques. Enfin, un modèle de cellulaire de protoporphyrie érythropoïétique a été caractérisé, notamment par dosage de l'hème intracellulaire par spectrométrie de masse. Il récapitule les accumulations de porphyrines et les variations observées chez les patients en cas de carence martiale. Les développements méthodologiques des dosages par spectrométrie de masse, de l'ALA et du PBG, et du produit final, l'hème, présentés ici, sont une première étape nécessaire à l'étude de la voie métabolique sans l'angle du flux. Cette vision dynamique permettra de répondre à une série de questions fondamentales concernant la physiopathologie des porphyries, notamment hépatiques aiguës : la voie est-elle activée différemment chez les patients malades et porteurs ? Y-a-t-il une carence en hème à l'état basal ou lors d'une crise ? Une crise induit-elle une augmentation de synthèse de l'hème ?
Porphyrias are genetic diseases caused by dysfunction of an enzyme in the heme biosynthesis pathway, responsible for the accumulation of toxic metabolites. They are subdivided in porphyrias of hepatic origin, where heme is the main regulator of its synthesis, and erythropoietic porphyrias, where iron bioavailability is the main determinant of heme synthesis. In this work, mass spectrometry methods were developed to better characterize the pathophysiology of porphyrias. Firstly, the determination of the precursors of the pathway, ALA and PBG, in blood and urine, was applied to the diagnosis and improved monitoring of patients suffering from acute hepatic porphyrias. The second part of the project focused on the link between iron metabolism and erythropoietic porphyrias. It demonstrated the biological and clinical efficacy of inducing martial deficiency in patients with erythropoietic porphyrias. A study of the primary culture of patients' erythroid progenitors confirmed the impact of variations in iron bioavailability on the accumulation of toxic porphyrins. Finally, a cellular model of erythropoietic protoporphyria was characterized, in particular by determining intracellular heme using mass spectrometry. It reproduces the porphyrin accumulations and variations observed in patients with martial deficiency. The methodological developments in the mass spectrometric assays of ALA and PBG, and of the final product, heme, presented here, are a necessary first step in the study of the metabolic pathway from a flow perspective. This dynamic vision will provide answers to a series of fundamental questions concerning the pathophysiology of porphyrias, in particular acute hepatic porphyrias: is the pathway activated differently in patients with and without porphyria? Is there a heme deficiency in the basal state or during an attack? Does an attack induce an increase in heme synthesis?
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Chen, Wei-Ju, und 陳薇如. „1. Rapid Screening Assay of Acute Hepatic Porphyria in Urine with Surface-Assisted Laser Desorption/Ionization Mass Spectrometry. 2. A Microwave-Assisted Procedure to Reduce Asn Deamidation Artifacts during trypsin peptide mapping. 2. A Microwave-Assisted Procedure to Reduce Asn Deamidation Artifacts during trypsin peptide mapping“. Thesis, 2016. http://ndltd.ncl.edu.tw/handle/92526197013692251048.

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碩士
國立中興大學
分子生物學研究所
104
[論文題目一] The porphyrias are a group of rare inherited metabolic disorders of heme biosynthesis and acute hepatic porphyria is the most serious type of porphyria. In hospital, the concentrations of aminolevulinic acid (ALA) and porphobilinogen (PBG) in random urine are used for the diagnosis of acute porphyria, owing to the concentration of ALA and PBG will get higher in patient urine. Recently, mass spectrometry has better performance on sensitivity and specificity, it offered an alternative tool for porphyria clinical studies. Surface-assisted laser desorption/ionization time-of-flight mass spectrometry (SALDI-TOF MS) are known for its high throughput, high sensitivity and the ability of the quantification of small molecules. In this study, our purpose is to establish a rapid and high-throughput platform for the screen of acute hepatic porphyria patients by using SALDI-TOF MS. In results, fullerene C60 has the best performance compared with other traditional organic matrix (CHCA and DHB) and carbon materials (graphene nanoplatelets grade 5, graphene nanohorns, single-layer graphene oxide, 2-4 few-layer graphene oxide, 4-8 multi-layer graphene oxide). Then, the parameters of C60 are optimized by using PBG, including the solution (ddH2O), concentration (10 ppm), SALDI-TOF MS mode (negative mode) and sample preparation (thin-layer method). And the limits of detection were 2.5 ppm for ALA and 1 ppm for PBG. Overall, we establish a simple, sensitive and high-throughput technique for the detection of ALA and PBG in urine, it can help us to screen the acute porphyria patients. [論文題目二] Deamidation is a common protein post-translational modification, it can convert asparagine (Asn) into aspartate (Asp), and it’s also a common degradation mechanism of protein pharmaceuticals. The changes in protein structure occurs when deamination modifies in the active part of protein residue. Since deamidation has negative impacts on protein pharmaceuticals, accurate quantitation of Asn deamidation in protein pharmaceuticals is highly demanded. Traditional method of protein quantification is based on antigen-antibody binding assay. Owing to the fast development of mass spectrometry, liquid chromatography-tandem mass spectrometry (LC-MS/MS) has become an alternative analytical platform in decades. So far, up to 80% of protein samples have the modification of deamidation in traditional trypsin digestion. Nowadays, many studies investigate appropriate parameters for decreasing deamination, such as the contains, concentrations, pH, temperature of buffer in digestion, etc. However, there’s no study investigate the effect of microwave-assisted digestion. In this study, the purpose is to establish a non asparagine deamidation of trypsin digestion by using microwave-assisted method. First, PENNY peptides were reduced and alkylated in traditional method and direct incubated in 37℃ for 16 hr, or in microwave-assisted method, 900 W (high power) for 1 min,100 W (low power) for 30 min, and they were analyzed by using low-resolution MS (LTQ-XL), it showed that only direct incubated in high power has no Asn deamidation. Next, PENNY peptides were incubated in 37℃ for 16 hr, 4 hr, microwave 900 W for 1 min,100 W for 30 min directly or in traditional method, and they were analyzed by using high-resolution MS (TripleTOF 6600), it indicated that direct incubation in high and low power has no Asn deamidation. Then, only reduction, only alkylation, reduction-alkylation in traditional method (37℃ for 30 min) or microwave-assisted method (900 W for 5 min) were analyzed. It showed that reduction-alkylation in traditional method resulted in the modification of deamidation. Therefore, it confirmed that microwave-assisted method can decrease asparagine deamidation. Finally, the platform of trypsin digestion in high or low power microwave-assisted method were tested, the results showed that both high and low power microwave-assisted method had no Asn deamidation in PENNY peptide. In future, this platform can be applied on the quality control of protein pharmaceuticals, and help the researches about Asn deamination.
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Bücher zum Thema "Acute hepatic porphyrias"

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Keshav, Satish, und Alexandra Kent. Psychiatry in gastrointestinal medicine. Herausgegeben von Patrick Davey und David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0206.

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This chapter discusses psychiatric conditions with gastrointestinal (GI) consequences (including eating disorders, depression, and side effects of psychiatric medications), and GI diseases with psychiatric symptoms (including hepatic encephalopathy, coeliac disease, Wilson’s disease, acute intermittent porphyria, functional GI disease, and inflammatory bowel disease).
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Bosworth, Brian P., Brian R. Landzberg und Elisa McEachern. Neurological Manifestations of Gastrointestinal and Hepatic Diseases. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0190.

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Digestive diseases may have protean neurological manifestations, and should be considered during neurological evaluation of patients. Neurological manifestations of celiac disease (CD) may involve both central and peripheral nervous system, including syndromes of cerebellar and myoclonic ataxia, encephalopathy and dementia, seizures, CNS vasculitis and progressive multifocal leukoencephalopathy, peripheral neuropathy, and myopathy. Gluten sensitivity has been frequently implicated as a cause of neuropathy, with up to 49% of celiac disease patients experiencing some form of neuropathy and almost 40% meeting the criteria for peripheral neuropathy. Gluten ataxia is one of the most common neurological manifestations of celiac disease. Neurologic manifestations of inflammatory bowel disease (IBD) have long been recognized, with an incidence ranging from less than 1% to 35%. These manifestations may precede or, more commonly, follow a diagnosis of IBD. Hepatic encephalopathy, Wilson’s disease, and acute intermittent porphyria are examples of liver diseases associated with hepatic disorders.
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Buchteile zum Thema "Acute hepatic porphyrias"

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Lang, Estefanía, Martin Schäfer, Holger Schwender, Norbert J. Neumann und Jorge Frank. „Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias“. In JIMD Reports, 17–22. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/8904_2015_406.

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Jaramillo-Calle, Daniel A., und Daniel C. Aguirre Acevedo. „Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients“. In JIMD Reports, 65–72. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_125.

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Dragneva, Sonya, Monika Szyszka-Niagolov, Aneta Ivanova, Lyudmila Mateva, Rumiko Izumi, Yoko Aoki und Yoichi Matsubara. „Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)“. In JIMD Reports, 57–64. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/8904_2014_320.

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Badminton, Michael N., und George H. Elder. „The porphyrias“. In Oxford Textbook of Endocrinology and Diabetes, 1694–700. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.1267.

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The porphyrias are metabolic diseases resulting from deficiency, or in one disease, an increase in the activity, of specific enzymes in the haem biosynthetic pathway (1, 2). Each of the eight main types of porphyria is defined by the association of characteristic clinical features with a specific pattern of excess production of pathway intermediates. Each pattern indicates the site of the underlying enzymatic abnormality (Fig. 12.3.3.1). The porphyrias can therefore be defined clinically as either an acute porphyria, characterized by acute neurovisceral attacks that are associated with the overproduction of the porphyrin precursor, 5-aminolaevulinic acid (ALA, OMIM 125270), usually accompanied by porphobilinogen, or a nonacute porphyria in which these attacks are absent and photocutaneous symptoms due to excess formation of porphyrins are the main clinical manifestation. Other classifications include division into erythropoietic or hepatic, depending on the principal site of expression of the specific enzymatic defect.
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Albers, James W. „Porphyric Neuropathy“. In Diagnosis and Management of Peripheral Nerve Disorders, 344–66. Oxford University PressNew York, NY, 2001. http://dx.doi.org/10.1093/oso/9780195133011.003.0017.

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Abstract The porphyrias represent a group of metabolic disorders caused by enzymatic defects in the biosynthesis of heme. As a group they include inherited and acquired disorders in which activities of enzymes of the heme biosynthetic pathway are partially deficient. The porphyrias are classified as either hepatic or erythroid, depending on the principal site of expression of the enzymatic defect. The four hepatic porphyrias [acute intermittent porphyria, hereditary coproporphyria,variegate porphyria, and 8-aminolevulinic acid (ALA) dehydratase deficiency] associated with neuropathy, referred to as the porphyric neuropathies, are the focus of this chapter (Table 17-1). These disorders have been poorly understood by most clinicians, and often go unrecognized until recurrent attacks or involvement of other organ systems suggest the diagnosis. The severity of neurologic involvement, and the availability of potential treatments or avoidance of provocative factors, makes identification important.
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Badminton, Michael N., und Danja Schulenburg-Brand. „The Porphyrias“. In Oxford Textbook of Endocrinology and Diabetes 3e, herausgegeben von John A. H. Wass, Wiebke Arlt und Robert K. Semple, 1909–14. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198870197.003.0236.

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The porphyrias are a group of mainly inherited metabolic conditions resulting from partial deficiency, or in one condition increased activity, of individual enzymes of haem biosynthesis. Clinical presentation is either with acute neurovisceral attacks, skin photosensitivity, or both, due to overproduction of pathway intermediates. Diagnosis is based on biochemical testing, preferably during or soon after symptomatic periods. Penetrance in autosomal dominant acute porphyrias is low. They predominantly affect adult females and are managed by treatment of acute symptoms and intravenous haematin to suppress hepatic overproduction of precursors. Cutaneous porphyrias present in two distinct patterns of skin photosensitivity; acute painful photosensitivity (protoporphyrias) and fragile skin (bullous porphyrias). Treatment includes photoprotection against visible light (sunlight) especially for the erythropoietic porphyrias. Porphyria cutanea tarda (PCT) may be the first manifestation of liver disease and skin lesions can be effectively treated.
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„Hepatic Porphyria, Acute (AHP)“. In The APRN and PA’s Complete Guide to Prescribing Drug Therapy. New York, NY: Springer Publishing Company, 2019. http://dx.doi.org/10.1891/9780826179357.0167a.

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Wahlin, Staffan, und Pauline Harper. „Liver Transplantation in Acute Hepatic Porphyria and Erythropoietic Protoporphyria“. In Handbook of Porphyrin Science (Volume 29), 329–67. World Scientific Publishing Company, 2013. http://dx.doi.org/10.1142/9789814407755_0033.

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Konferenzberichte zum Thema "Acute hepatic porphyrias"

1

Ross, Gayle. „04095 Hormonal treatments in acute hepatic porphyria“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A26.2—A27. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.48.

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Towns, Cindy, Gisela Kristono und Leigh Searle. „04083 Embryo selection in the acute hepatic porphyrias: clinical, ethical and economic issues“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A10.2—A11. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.19.

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Oettel, Lucienne, Ilja Kubisch, Nils Wohmann, Romy Andrae, Jacqueline Uhle, Thaddäus Till Wissniowski und Ulrich Stölzel. „04143 A real-life overview of diet patterns and acute hepatic porphyria“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A43.2—A44. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.77.

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Puente Fernández, C., I. Solares, FJ Castelbón, I. Liria Fernandez, S. Diaz-Diaz, D. Bellido, J. Ros et al. „04153 Clinical and biochemical evolution of eight acute hepatic porphyria patients under givosiran treatment“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A23.2—A24. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.43.

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Moghe, Akshata, Garrett T. Coleman, Csilla K. Hallberg, Ruksana Huda, Shalonda Turner, Rochelle Simmons, VM Sadagopa Ramanujam und Karl E. Anderson. „04157 Administration of hemin and time-related effects on ferritin in acute hepatic porphyria“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A23.1—A23. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.42.

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Jaussaud, Roland, Patrick Mercié, Laurent Alric, Ivan Bertchansky, Claire Douillard, Adrien Bigot, Esther Noel et al. „04196 Prevalence of acute hepatic porphyria in the French population: first results of the PrevPHA prospective study“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A39.2—A40. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.70.

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Sardh, Eliane, David Cassiman, Laurent Gouya, Bruce Wang, Weiming Du, Teresa L. Kauf, Jamie L. Weiss und Manisha Balwani. „04104 Patient demographics and clinical characteristics at enrolment in ELEVATE, an international registry of acute hepatic porphyria“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A1.2—A2. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.2.

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Mainert, Mona, Lea Gerischer, Rajan Somasundaram, Sylvia Mechsner und Eva Diehl-Wiesenecker. „04127 Menstrual cycle-dependent symptoms in patients with acute hepatic porphyria – Data from the German Porphyria Registry (PoReGer)“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A28.2—A28. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.52.

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Brambillasca, Francesca, Paolo Ventura, Annamaria Porreca, Carlo Poci, Annalisa Crisetti, Antonina Giammanco und Matteo Marcacci. „04158 Assessing disease impact and quality of life: insights from a patient support program for acute hepatic porphyria“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A19.2—A20. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.36.

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Queiroz, Amadeu, Jacqueline Harouche Rodrigues Da Fonseca, Regina Albuquerque, Maria Da Penha Ananias Morita, Erica Coelho, Eduardo Estephan, Ieda Bussmann und Charles Marques Lourenco. „04184 ‘Cassandra curse’ or a modern ‘Sisyphus burden’? Recurrent attacks in a cohort of Brazilian patients with acute hepatic porphyrias“. In Abstracts of the International Conference of Porphyrins and Porphyrias, Pamplona, Spain, 21–25 September 2024, A36.1—A36. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/bmjgast-2024-icpp.64.

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