Ontology highlight
ABSTRACT:
SUBMITTER: Baumgartner MR
PROVIDER: S-EPMC199271 | biostudies-literature | 2001 Feb
REPOSITORIES: biostudies-literature
Baumgartner M R MR Almashanu S S Suormala T T Obie C C Cole R N RN Packman S S Baumgartner E R ER Valle D D
The Journal of clinical investigation 20010201 4
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism that appears to be the most frequent organic aciduria detected in tandem mass spectrometry-based neonatal screening programs. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. MCC is a heteromeric mitochondrial enzyme composed of biotin-containing alpha subunits and smaller beta subunits. Here, we re ...[more]