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Article

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

Gene - 15 Dec 2016

Fonseca Helena, Azevedo Luisa, Serrano Catarina, Sousa Carmen, Marcão Ana, Vilarinho Laura

Abstract excerpt

The deficiency of 3-methycrotonyl-CoA carboxylase (3-MCC; EC 6.4.1.4) is an autosomal recessive organic aciduria that is included in the newborn screening programs of several countries. This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically...

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Source

Identifiers

PMID: 27601257
DOI: 10.1016/j.gene.2016.09.003

Genes

MCC
MCCC1
MCCC2

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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