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Article

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.

Molecular genetics and metabolism - 1 Feb 2011

Nguyen Khue Vu, Naviaux Robert K, Patra Satyajit, Barshop Bruce A, Nyhan William L

Abstract excerpt

Methylcrotonylglycinuria (MCG) 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 clinical phenotypes are highly variable ranging from neonatal onset with severe neurological involvement to asymptomatic adults. Here we identified two novel MCCA (exon 3: c.137G>A; p.46G>E), (IVS7-1G>A splice site...

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Source

Identifiers

PMID: 21071250
DOI: 10.1016/j.ymgme.2010.10.008

Genes

MCC

Variants

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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