Results 1 to 10 of about 22,814 (205)

Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism [PDF]

Genes and Diseases, 2022
Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the ...
Brendan P. Norman, Andrew S. Davison, Juliette H. Hughes, Hazel Sutherland, Peter JM. Wilson, Neil G. Berry, Andrew T. Hughes, Anna M. Milan, Jonathan C. Jarvis, Norman B. Roberts, Lakshminarayan R. Ranganath, George Bou-Gharios, James A. Gallagher   +12 more
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Renal replacement therapy in neonates with an inborn error of metabolism [PDF]

Korean Journal of Pediatrics, 2019
Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism.
Heeyeon Cho
doaj   +2 more sources

Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults [PDF]

Annals of Clinical and Translational Neurology, 2020
D‐2‐hydroxyglutaric aciduria type 1 (D2HGA1) is a rare inherited metabolic disorder usually manifesting in infancy/early childhood with seizures and significant central nervous system involvement.
Sepideh Tabarestani, Brenda Varriano, Sapna Rawal, Chantal France Morel, Maria Carmela Tartaglia, Danielle M. Andrade   +5 more
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Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review [PDF]

Molecular Genetics and Metabolism Reports
Branched-chain amino acid transferase type 2 (BCAT2) deficiency is a rare autosomal recessive genetic condition, with only seven cases described to date.
Etienne Mondésert, Juliette Bouchereau, Manuel Schiff, Jean-François Benoist, Guilia Barcia, Boris Keren, Inès Mannes, Clément Pontoizeau, Charlotte Mansat, Apolline Imbard   +9 more
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Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

Molecular Genetics and Metabolism Reports, 2022
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase.
Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff   +15 more
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Analysis of the Incidence and Risk Factors of Precocious Puberty in Girls during the COVID-19 Pandemic

International Journal of Endocrinology, 2022
Home quarantine due to the global coronavirus disease 2019 (COVID-19) pandemic has had a significant impact on children. Lifestyle changes have led to an increase in precocious puberty (PP) among girls, and the underlying risk factors for this remain ...
Dongxia Fu, Tao Li, Yingxian Zhang, Huizhen Wang, Xue Wu, Yongxing Chen, Bingyan Cao, Haiyan Wei   +7 more
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Citrulline in the management of patients with urea cycle disorders

Orphanet Journal of Rare Diseases, 2023
Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through the urea ...
Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay   +10 more
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A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation

Biomedicines, 2021
Mitochondrial proteins carrying iron-sulfur (Fe-S) clusters are involved in essential cellular pathways such as oxidative phosphorylation, lipoic acid synthesis, and iron metabolism.
Elise Lebigot, Manuel Schiff, Marie-Pierre Golinelli-Cohen   +2 more
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Isovaleric Acidemia as a Rare Cause for Bad Obstetric History [PDF]

Journal of Clinical and Diagnostic Research, 2021
Isovaleric acidemia is an inborn error of metabolism, inherited as an autosomal recessive disorder, caused by deficiency of isovalerylCoenzyme A (CoA) dehydrogenase, leading to elevated plasma isovaleric acid and urine isovalerylglycine levels ...
Sailatha Ramanujam, Shery Angel, Anuradha Coimbatore Ramachandran, Anu Bhargavi Basker   +3 more
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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

Nature Communications, 2022
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain.
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff   +15 more
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