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Article

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

American journal of human genetics - 1 Nov 2004

Baumgartner Matthias R, Dantas M Fernanda, Suormala Terttu, Almashanu Shlomo, Giunta Cecilia, Friebel Dolores, Gebhardt Boris, Fowler Brian, Hoffmann Georg F, Baumgartner E Regula, Valle David

Abstract excerpt

Deficiency of 3-methylcrotonyl-CoA carboxylase (MCC) results in elevated excretion of 3-methylcrotonylglycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA). MCC is a heteromeric mitochondrial enzyme comprising biotin-containing alpha subunits and smaller beta subunits, encoded by MCCA and MCCB, respectively. Mutations in these genes cause isolated MCC deficiency, an autosomal recessive disorder with a variable...

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Identifiers

PMID: 15359379
DOI: 10.1086/425181
PMCID: PMC1182108

Genes

MCC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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