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Article

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2015

Shepard Peter J, Barshop Bruce A, Baumgartner Matthias R, Hansen John-Bjarne, Jepsen Kristen, Smith Erin N, Frazer Kelly A

Abstract excerpt

PURPOSE: 3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure to thrive, hemiparesis, muscular hypotonia, and multiple sclerosis. Implementation of newborn screening for MCCD has resulted in broadening the range of...

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Identifiers

PMID: 25356967
DOI: 10.1038/gim.2014.157
PMCID: PMC4422778

Genes

MCC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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