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Article

[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2014

Ye Jun, Gong Lifei, Han Lianshu, Qiu Wenjuan, Zhang Huiwen, Gao Xiaolan, Jin Jing, Xu Hao, Gu Xuefan

Abstract excerpt

OBJECTIVE: 3-Methylcrotonyl-coenzyme A carboxylase deficiency (MCCD) is an autosomal recessive inborn error of leucine catabolism. The cases suspected as MCCD detected by neonatal screening are not rare. The aim of the study was to investigate the clinical outcomes in cases suspected as MCCD by neonatal screening. The second aim was to investigate the mutation spectrum of MCC gene in Chinese population and...

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Source

Identifiers

PMID: 25190158

Genes

MCCC1
MCC
MCCC2

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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