Ontology highlight
ABSTRACT:
SUBMITTER: Wortmann SB
PROVIDER: S-EPMC3249181 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Wortmann Saskia B SB Kluijtmans Leo A LA Engelke Udo F H UF Wevers Ron A RA Morava Eva E
Journal of inherited metabolic disease 20100930 1
The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of metabolism biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. Five distinct types have been recognized: 3-methylglutaconic aciduria type I is an inborn error of leucine catabolism; the additional four types all affect mitochondrial function through different pathomechanisms. We provide an overview of the expanding clinical spectrum of the 3-MGA-uria ...[more]