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Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.

Human molecular genetics - 1 Jun 2001

Holzinger A, Röschinger W, Lagler F, Mayerhofer P U, Lichtner P, Kattenfeld T, Thuy L P, Nyhan W L, Koch H G, Muntau A C, Roscher A A

Abstract excerpt

3-Methylcrotonyl-CoA: carboxylase (EC 6.4.1.4; MCC) deficiency is an inborn error of the leucine degradation pathway (MIM *210200) characterized by increased urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. The clinical phenotypes are highly variable ranging from asymptomatic to profound metabolic acidosis and death in infancy. Sequence similarity with Glycine max and Arabidopsis...

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Source

Identifiers

PMID: 11406611
DOI: 10.1093/hmg/10.12.1299

Genes

MCC

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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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Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.PMID 11406611Read ↗

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