Computational structural genomics and clinical evidence suggest BCKDK gain‐of‐function may cause a potentially asymptomatic maple syrup urine disease phenotype

Abstract Maple syrup urine disease (MSUD) is a disorder of branched‐chain amino acid metabolism caused by a defect in the branched‐chain α‐ketoacid dehydrogenase (BCKD) complex (OMIM #248600). The hallmark presentation is encephalopathic crisis in neonates, but can also present with metabolic decomp...

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Auteurs principaux:	Emily Singh, Young‐In Chi, Jessica Kopesky, Michael Zimmerman, Raul Urrutia, Donald Basel, Jessica Scott Schwoerer
Format:	Artigo
Langue:	Inglês
Publié:	Wiley 2024-05-01
Collection:	JIMD Reports
Sujets:	3D‐genomics branched‐chain ketoacid dehydrogenase kinase (BCKDK) gain‐of‐function maple syrup urine disease (MSUD) molecular dynamics simulation newborn screening
Accès en ligne:	https://doi.org/10.1002/jmd2.12419
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