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Article

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Human mutation - 1 Aug 2005

Dantas Maria Fernanda, Suormala Terttu, Randolph Ann, Coelho David, Fowler Brian, Valle David, Baumgartner Matthias R

Abstract excerpt

Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder that appears to be the most frequent organic aciduria detected in tandem mass spectrometry (TMS)-based neonatal screening programs. The phenotype is variable, ranging from neonatal onset with severe neur...

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Source

Identifiers

PMID: 16010683
DOI: 10.1002/humu.9352

Genes

MCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16010683-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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