Bibliografias temáticas / Mucopolysaccharidosis Metabolism Disorders

Literatura científica selecionada sobre o tema "Mucopolysaccharidosis Metabolism Disorders"

Autor: Grafiati

Publicado: 4 de junho de 2021

Última modificação: 28 de janeiro de 2023

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Artigos de revistas sobre o assunto "Mucopolysaccharidosis Metabolism Disorders":

Vasilev, Filipp, Aitalina Sukhomyasova e Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome". International Journal of Molecular Sciences 21, n.º 2 (9 de janeiro de 2020): 421. http://dx.doi.org/10.3390/ijms21020421.

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Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient’s skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) and two patients from Turkey. Clinical features of MPSPS patients are similar to conventional mucopolysaccharidoses (MPS). In addition to typical symptoms for conventional MPS, MPSPS patients developed other features such as congenital heart defects, renal and hematopoietic disorders. Diagnosis generally requires evidence of clinical picture similar to MPS and molecular genetic testing. Disease is very severe, prognosis is unfavorable and most of patients died at age of 10–20 months. Currently there is no specific therapy for this disease and clinical management is limited to supportive and symptomatic treatment.

Scarpa, Maurizio, Charles Marques Lourenço e Hernán Amartino. "Epilepsy in mucopolysaccharidosis disorders". Molecular Genetics and Metabolism 122 (dezembro de 2017): 55–61. http://dx.doi.org/10.1016/j.ymgme.2017.10.006.

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Kaczor-Kamińska, Marta, Kamil Kamiński e Maria Wróbel. "Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders". Antioxidants 11, n.º 4 (30 de março de 2022): 678. http://dx.doi.org/10.3390/antiox11040678.

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Mucopolysaccharidosis, type IIIB (MPS IIIB) is a rare disease caused by mutations in the N-alpha-acetylglucosaminidase (NAGLU) gene resulting in decreased or absent enzyme activity. On the cellular level, the disorder is characterized by the massive lysosomal storage of heparan sulfate (HS)—one species of glycosaminoglycans. HS is a sulfur-rich macromolecule, and its accumulation should affect the turnover of total sulfur in cells; according to the studies presented here, it, indeed, does. The lysosomal degradation of HS in cells produces monosaccharides and inorganic sulfate (SO42−). Sulfate is a product of L-cysteine metabolism, and any disruption of its levels affects the entire L-cysteine catabolism pathway, which was first reported in 2019. It is known that L-cysteine level is elevated in cells with the Naglu−/− gene mutation and in selected tissues of individuals with MPS IIIB. The level of glutathione and the Naglu−/− cells’ antioxidant potential are significantly reduced, as well as the activity of 3-mercaptopyruvate sulfurtransferase (MPST, EC 2.8.1.2) and the level of sulfane sulfur-containing compounds. The direct reason is not yet known. This paper attempts to identify some of cause-and-effect correlations that may lead to this condition and identifies research directions that should be explored.

Baxi, Kalgi, Ashish Jagati e Pooja Agarwal. "Mucopolysachharidosis-II: A Rare Case Report". Nepal Journal of Dermatology, Venereology & Leprology 18, n.º 1 (8 de outubro de 2020): 80–82. http://dx.doi.org/10.3126/njdvl.v18i1.25996.

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Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an accumulation of incompletely degraded mucopolysaccharides in the lysosomes which affect various body systems through enzymatic activity. We present a case of mucopolysaccharidosis type II with hallmark cutaneous features, mild mental retardation associated with radiological changes.

Alden, Tord D., Hernán Amartino, Amauri Dalla Corte, Christina Lampe, Paul R. Harmatz e Leonardo Vedolin. "Surgical management of neurological manifestations of mucopolysaccharidosis disorders". Molecular Genetics and Metabolism 122 (dezembro de 2017): 41–48. http://dx.doi.org/10.1016/j.ymgme.2017.09.011.

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Zapolnik, Paweł, e Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review". International Journal of Molecular Sciences 23, n.º 9 (26 de abril de 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.

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Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans’ abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. It causes its damage and impairment. Patients with the severe form of MPS I usually do not live up to the age of ten. Currently, the therapy is based on multidisciplinary care and enzyme replacement therapy or hematopoietic stem cell transplantation. Applying gene therapy might benefit the MPS I patients because it overcomes the typical limitations of standard treatments. Nanoparticles, including nanoemulsions, are used more and more in medicine to deliver a particular drug to the target cells. It allows for creating a specific, efficient therapy method in MPS I and other lysosomal storage disorders. This article briefly presents the basics of nanoemulsions and discusses the current state of knowledge about their usage in mucopolysaccharidosis type I.

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Zahoor, Muhammad Yasir, Huma Arshad Cheema, Sadaqat Ijaz, Muhammad Nadeem Anjum, Khushnooda Ramzan e Munir Ahmad Bhinder. "Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1". Journal of Pediatric Endocrinology and Metabolism 32, n.º 11 (26 de novembro de 2019): 1221–27. http://dx.doi.org/10.1515/jpem-2019-0188.

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Abstract Background Mucopolysaccharidosis type 1 (MPS1) is a rare debilitating multisystem lysosomal disorder resulting due to the deficiency of α-L-iduronidase enzyme (IDUA), caused by recessive mutations in the IDUA gene. Lack or improper amount of the IDUA enzyme results in the improper metabolism of mucopolysaccharides or glycosaminoglycans (GAGs). These large sugar molecules accumulate in lysosomes within cells leading to different systemic complications. The estimated global incidence of MPS1 is 1:100,000 live births for the Hurler and 1:800,000 for the Scheie phenotypes. Methods Thirteen MPS1-affected children from 12 unrelated cohorts were enrolled. All coding and flanking regions of the IDUA gene were sequenced. Bioinformatics tools were used for data analysis and protein prediction for clinical correlations. Results Six IDUA gene mutations were mapped co-segregating with the recessive pattern of inheritance including a novel variant. A novel missense variant c.908T > C (p.L303P) was mapped in two affected siblings in a cohort in the homozygous form. The variant c.1469T > C (p.L490P) was mapped in five unrelated patients and c.784delC (p.H262Tfs*55) was mapped in three unrelated patients, while mutations c.1598C > G (p.P533R), c.314G > A (p.R105Q) and c.1277ins9 (p.[A394-L395-L396]) were mapped in a single patient each. Conclusions Multisystem disorders and a wide range of clinical presentation impede the evaluation of patients as well as make it difficult to differentiate between different phenotypes of MPS. Early and accurate diagnosis is crucial for the disease management and implementation of an expanded new-born genetic screening program for inborn errors of metabolism including MPS1. We recommend c.784delC (p.H262Tfs*55) and c.1469T > C (p.L490P) as first-line genetic markers for the molecular diagnosis of MPS1 in Pakistan.

De Filippis, Concetta, Barbara Napoli, Laura Rigon, Giulia Guarato, Reinhard Bauer, Rosella Tomanin e Genny Orso. "Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes". Cells 11, n.º 1 (31 de dezembro de 2021): 129. http://dx.doi.org/10.3390/cells11010129.

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Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the IDUA gene and is characterized by the accumulation of the undegraded mucopolysaccharides heparan sulfate and dermatan sulfate into lysosomes, with secondary cellular consequences that are still mostly unclarified. Here, we report a new fruit fly RNAi-mediated knockdown model of a IDUA homolog (D-idua) displaying a phenotype mimicking some typical molecular features of Lysosomal Storage Disorders (LSD). In this study, we showed that D-idua is a vital gene in Drosophila and that ubiquitous reduction of its expression leads to lethality during the pupal stage, when the precise degradation/synthesis of macromolecules, together with a functional autophagic pathway, are indispensable for the correct development to the adult stage. Tissue-specific analysis of the D-idua model showed an increase in the number and size of lysosomes in the brain and muscle. Moreover, the incorrect acidification of lysosomes led to dysfunctional lysosome-autophagosome fusion and the consequent block of autophagy flux. A concomitant metabolic drift of glycolysis and lipogenesis pathways was observed. After starvation, D-idua larvae showed a quite complete rescue of both autophagy/lysosome phenotypes and metabolic alterations. Metabolism and autophagy are strictly interconnected vital processes that contribute to maintain homeostatic control of energy balance, and little is known about this regulation in LSDs. Our results provide new starting points for future investigations on the disease’s pathogenic mechanisms and possible pharmacological manipulations.

Marsden, Deborah, e Harvey Levy. "Newborn Screening of Lysosomal Storage Disorders". Clinical Chemistry 56, n.º 7 (1 de julho de 2010): 1071–79. http://dx.doi.org/10.1373/clinchem.2009.141622.

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Abstract Background: Newborn screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism. Consideration is now being given to inclusion of screening for lysosomal storage disorders (LSDs). Content: Some lysosomal storage disorders (LSDs) express early in infancy or childhood and are treatable. Initiation of treatment in presymptomatic patients or in syptomatic patients before important symptoms are present may improve the long-term outcome. Therefore, early diagnosis is critical. Based on the availability of therapy and development of a screening method, 6 of the more than 40 known LSDs are candidates for newborn screening in the US: Gaucher disease, Pompe disease, Fabry disease, Niemann-Pick disease, mucopolysaccharidosis I, and Krabbe disease. This report reviews the history of newborn screening, the technology that has allowed for expanded screening during the last decade, LSDs and their treatment, and the evolving methods that might allow additional expansion of newborn screening to include certain LSDs. Summary: Recent and evolving technological advances may be implemented for newborn screening for LSDs. This screening will identify presymptomatic newborns, allowing for early treatment and prevention or limitation of morbidity otherwise associated with these inherited rare diseases.

Mais fontes

Teses / dissertações sobre o assunto "Mucopolysaccharidosis Metabolism Disorders":

Litjens, Tom. "The molecular genetics of mucopolysaccharidosis type VI /". Title page, contents and abstract only, 1994. http://web4.library.adelaide.edu.au/theses/09PH/09phl776.pdf.

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Zarrinkalam, Krystyna. "Characterisation of osteoblast function in a feline model of mucopolysaccharidosis type VI". Title page, contents and introduction only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phz38.pdf.

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Addenda slip inserted in back. Includes bibliographical references (leaves 178-231). To further the understanding of the molecular mechanisms that contribute to the skeletal pathology of mucopolysaccharidosis type VI and to investigate the production of organic matrix by mucopolysaccharidosis VI osteoblasts

Zarrinkalam, Krystyna Helena. "Characterisation of osteoblast function in a feline model of mucopolysaccharidosis type VI / by Krystyna Zarrinkalam". Thesis, 2001. http://hdl.handle.net/2440/21750.

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Addenda slip inserted in back.
Includes bibliographical references (leaves 178-231).
xiv, 234, [19] leaves, [56] leaves of plates : ill. (chiefly col.) ; 30 cm.
To further the understanding of the molecular mechanisms that contribute to the skeletal pathology of mucopolysaccharidosis type VI and to investigate the production of organic matrix by mucopolysaccharidosis VI osteoblasts
Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2001

Feldhammer, Matthew. "N-acétyltransférase lysosomale : organisation, fonctionnement et défauts moléculaires chez les patients atteints du syndrome de Sanfilippo type C". Thèse, 2009. http://hdl.handle.net/1866/3729.

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L’acétylation des résidus de glucosamine terminaux par la N-acétyltransférase lysosomale (HGSNAT) est une étape essentielle de la dégradation catabolique de l’héparan sulfate. Des défauts dans cette réaction causent une maladie de surcharge lysosomale autosomale récessive rare : le désordre de Sanfilippo type C (SFC). À ce jour, 54 mutations ont été rapportées chez des patients SFC, incluant 13 mutations des sites d’épissage, 11 insertions et délétions, 8 mutations non-sens, 18 mutations faux-sens et 4 polymorphismes, avec différentes manifestations phénotypiques. Nous avons identifié 10 d’entre elles et effectué une étude exhaustive portant sur l’éventail des mutations SFC, leur distribution dans la population de patients, ainsi que leur impact potentiel sur la structure de la HGSNAT. Les erreurs d’épissage, les mutations non-sens, les insertions et les délétions devraient toutes entraîner un ARN non fonctionnel qui est rapidement dégradé par des mécanismes de contrôle qualité cellulaire. Les 4 polymorphismes identifiés sont des changements d'acides aminés qui ne modifient pas l'activité enzymatique, la glycosylation ou la localisation et n'ont donc pas de signification au niveau clinique. Au niveau des enzymes, les polymorphismes sont des changements d’acides aminés qui n’affectent pas la fonction, mais dans un contexte d’acides nucléiques ils peuvent être considérés comme des mutations faux-sens. Les dix-huit mutations faux-sens qui ont été exprimées ont produit des protéines inactives, en raison d'erreurs dans leur repliement. Ceci expliquerait donc la progression sévère de la maladie chez les personnes porteuses de ces mutations. Les protéines mutantes mal repliées sont anormalement glycosylées et conservées dans le réticulum endoplasmique. La thérapie par amélioration de l’activité enzymatique par des chaperonnes est une option thérapeutique potentielle, spécifiquement conçue pour exploiter l'activité enzymatique résiduelle de mutants mal repliés, afin d’éliminer les substrats stockés. Nous avons démontré que le traitement de plusieurs lignées de fibroblastes de patients SFC avec le chlorhydrate de glucosamine, un inhibiteur spécifique de la HGSNAT, a partiellement restauré l’activité de l'enzyme mutante, fournissant une preuve de l’utilité future de la thérapie par des chaperonnes dans le traitement de la maladie de SFC.
The acetylation of terminal glucosamine residues by lysosomal N-acetyltransferase (HGSNAT) is an essential part of the catabolic breakdown of heparan sulfate. Defects in this reaction result in the rare autosomal recessive lysosomal storage disorder Sanfilippo syndrome type C (SFC). To date 54 mutations in SFC patients have been reported including 13 splice-site mutations, 11 insertions and deletions, 8 nonsense, 18 missense and 4 polymorphisms, with different phenotypic manifestations. We have identified 10 of them and conducted a comprehensive review discussing the spectrum of Sanfilippo C mutations, their distribution within the patient population as well as how the mutations could potentially affect the structure of HGSNAT. Splicing errors, nonsense mutations, insertions and deletions were all predicted to result in non-functional RNA which is rapidly degraded by cellular quality control mechanisms. The 4 identified polymorphisms resulted in amino acid changes which did not affect the enzyme activity, glycosylation or targeting and were therefore not clinically significant. Polymorphisms, in the context of enzymes are amino acid changes not affecting function, but in the context of nucleic acids can still be considered as missense mutations. Eighteen missense mutations were expressed and shown be inactive due to errors in protein folding providing an explanation for the severe disease progression seen in individuals with these mutations. Misfolded mutants were abnormally glycosylated and retained in the endoplasmic reticulum. Enzyme enhancement/chaperone therapy is a potential treatment option specifically designed to exploit the residual enzyme activity of misfolded mutants in order to clear stored substrates. We demonstrated that treatment of several fibroblast lines of SFC patients with a specific inhibitor of HGSNAT; glucosamine-hydrochloride partially rescued mutant enzyme activity providing a proof of principle for the future use of chaperone therapeutics in the treatment of SFC.

Livros sobre o assunto "Mucopolysaccharidosis Metabolism Disorders":

Frawley, Geoff. Mucopolysaccharidoses. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0064.

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The mucopolysaccharidoses (MPS) are a group of seven chronic progressive diseases caused by deficiencies of 11 different lysosomal enzymes required for the catabolism of glycosaminoglycans (GAGs). Hurler syndrome (MPS IH) is an autosomal recessive storage disorder caused by a deficiency of α‎-L-iduronidase. Hunter syndrome (MPS II) is an X-linked recessive disorder of metabolism involving the enzyme iduronate-2-sulfatase. Many of the MPS clinical manifestations have potential anesthetic implications. Significant airway issues are particularly common due to thickening of the soft tissues, enlarged tongue, short immobile neck, and limited mobility of the cervical spine and temporomandibular joints. Spinal deformities, hepatosplenomegaly, airway granulomatous tissue, and recurrent lung infections may inhibit pulmonary function. Odontoid dysplasia and radiographic subluxation of C1 on C2 is common and may cause anterior dislocation of the atlas and spinal cord compression.

Tomatsu, Shunji, Roberto Giugliani, Tadao Orii, Maurizio Scarpa e Paul Harmatz. Mucopolysaccharidoses Update: Medicine and Health / Endocrinology / Metabolic Disorders. Nova Science Publishers, Incorporated, 2018.

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Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0011.

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Porphyrias – Congenital Erythropoietic Porphyria – Erythropoietic Protoporphyria – Hereditary Coproporphyria – Porphyria Cutanea Tarda – Variegate Porphyria – Mucopolysaccharidoses – Hunter Syndrome – Other Metabolic Disorders – Acrodermatitis Enteropathica – Alkaptonuria – Biotinidase Deficiency – Familial Cutaneous Amyloidosis – Prolidase Deficiency

Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0011.

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Chapter 11 covers Porphyrias (Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria, Porphyria Cutanea Tarda, and Variegate Porphyria), Mucopolysaccharidoses (Hunter Syndrome), and Other Metabolic Disorders (Acrodermatitis Enteropathica, Alkaptonuria, Biotinidase Deficiency, Familial Cutaneous Amyloidosis, and Prolidase Deficiency). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Capítulos de livros sobre o assunto "Mucopolysaccharidosis Metabolism Disorders":

Jones, Simon, e Frits A. Wijburg. "Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders". In Inborn Metabolic Diseases, 577–90. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-662-49771-5_39.

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Jones, Simon, e Frits A. Wijburg. "Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders". In Inborn Metabolic Diseases, 765–83. Berlin, Heidelberg: Springer Berlin Heidelberg, 2022. http://dx.doi.org/10.1007/978-3-662-63123-2_41.

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Cervós-Navarro, Jorge, e Henry Urich. "Disorders of Glycosaminoglycan Metabolism (Mucopolysaccharidoses)". In Metabolic and Degenerative Diseases of the Central Nervous System, 110–36. Elsevier, 1995. http://dx.doi.org/10.1016/b978-012165250-0/50004-0.

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Florence, Nicholas. "Pediatric Musculoskeletal Radiology". In Ultrasound Guided Procedures and Radiologic Imaging for Pediatric Anesthesiologists, editado por Anna Clebone, Joshua H. Finkle e Barbara K. Burian, 155–80. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190081416.003.0014.

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Chapter 14 examines radiologic images for common and uncommon pediatric musculoskeletal disorders. These include pediatric fractures such as buckle fractures; bowing and greenstick fractures; growth plate, stress, and elbow fractures; avulsion injuries of the pelvis and hip; knee injuries; and nonaccidental trauma. The chapter goes on to look at infection and inflammation, including osteomyelitis, septic arthritis, transient synovitis, and juvenile idiopathic arthritis. Congenital and developmental disorders covered include developmental dysplasia of the hip, slipped capital femoral epiphysis, Legg-Calvé-Perthes disease, Blount disease, congenital foot deformities, scoliosis, neurofibromatosis, osteogenesis imperfecta, osteopetrosis, and dwarfism. Metabolic disorders include rickets, scurvy, lead poisoning, Gaucher disease, and mucopolysaccharidoses. Neoplastic and other aggressive lesions include osteosarcoma, Ewing sarcoma, osteoid osteoma, eosinophilic granuloma, osteochondroma, enchondroma, nonossifying fibromas/fibrous cortical defects, fibrous dysplasia, aneurysmal bone cysts, and unicameral (simple) bone cysts.

Deegan, Patrick B., e Timothy M. Cox. "Lysosomal disease". In Oxford Textbook of Medicine, editado por Timothy M. Cox, 2121–56. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0235.

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The lysosome is a ubiquitous, single membrane-bond intracellular organelle which continuously recycles biological macromolecules: it not only breaks down cell components but has a dynamic role in nutrient and energy sensing that, through regulatory signalling, is critical for homeostasis and metabolic economy of the cell. More than 80 lysosomal diseases caused by single gene defects are known. Biochemical classification identifies (1) sphingolipidoses; (2) mucopolysaccharidoses; (3) glycoproteinoses; (4) glycogenosis, with or without lysosomal debris derived from subcellular organelles due to impaired autophagy; and (5) miscellaneous conditions with multiple classes of storage material such as the neuronal ceroid lipofuscinoses. Functional classification describes deficiency of (1) a specific acid hydrolase activity, (2) an activator protein, (3) a lysosomal membrane protein or transporter, or (4) abnormal post-translational modification of lysosomal proteins, and (5) abnormal biogenesis of lysosomes. A unified classification will emerge from genetic characterization integrated with clinicopathological manifestations of the individual disorders. Fabry’s and Gaucher’s diseases (glycosphingolipidoses) are probably the most frequent in the general population, but certain lysosomal diseases are over-represented in particular groups where consanguinity or endogamy is high. Other diseases discussed in this chapter include (1) cystinosis, (2) the mucopolysaccharidoses, (3) Pompe’s disease (glycogen storage disease type II), (4) Niemann–Pick diseases, (5) lysosomal acid lipase deficiency, (6) Danon’s disease, and (7) diseases more recently attributed to primary defects in lysosomes and related organelles.