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...

Descripció completa

Dades bibliogràfiques

Autors principals:	Emily Singh, Young‐In Chi, Jessica Kopesky, Michael Zimmerman, Raul Urrutia, Donald Basel, Jessica Scott Schwoerer
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2024-05-01
Col·lecció:	JIMD Reports
Matèries:	3D‐genomics branched‐chain ketoacid dehydrogenase kinase (BCKDK) gain‐of‐function maple syrup urine disease (MSUD) molecular dynamics simulation newborn screening
Accés en línia:	https://doi.org/10.1002/jmd2.12419
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!