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Article

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

The Journal of clinical investigation - 1 Feb 2001

Baumgartner M R, Almashanu S, Suormala T, Obie C, Cole R N, Packman S, Baumgartner E R, Valle D

Abstract excerpt

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...

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Source

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Identifiers

PMID: 11181649
DOI: 10.1172/JCI11948
PMCID: PMC199271

Genes

MCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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