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Article

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

American journal of human genetics - 1 Feb 2001

Gallardo M E, Desviat L R, Rodríguez J M, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, Rodríguez-Pombo P, Criado O, Sanz R, Morton D H, Gibson K M, Le T P, Ribes A, de Córdoba S R, Ugarte M, Peñalva M A

Abstract excerpt

3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The introduction of tandem mass spectrometry in newborn screening has revealed an unexpectedly high incidence of this disorder, which, in certain areas, appears to be the most frequent organic aciduria. MCC, an heteromeric enzyme...

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Source

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Identifiers

PMID: 11170888
DOI: 10.1086/318202
PMCID: PMC1235267

Genes

MCC
CGA

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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The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.PMID 11170888Read ↗

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