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Article

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

Molecular genetics and metabolism - 1 Apr 2012

Morscher Raphael J, Grünert Sarah Catharina, Bürer Céline, Burda Patricie, Suormala Terttu, Fowler Brian, Baumgartner Matthias R

Abstract excerpt

Isolated 3-Methylcrotonyl-CoA carboxylase deficiency (MCC deficiency) is an organic aciduria presenting with a highly variable phenotype and has been part of newborn screening programs in various countries, in particular in the US. Here we present enzymatic and genetic characterisation of 22 individuals with increased 3-hydroxyisovalerylcarnitine and/or 3-methylcrotonylglycine suggesting MCC deficiency, but only...

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Source

Identifiers

PMID: 22264772
DOI: 10.1016/j.ymgme.2011.12.018

Genes

MCC
MCCC1
MCCC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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