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Article

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.

Journal of inherited metabolic disease - 1 Jan 2005

Baykal T, Gokcay G Huner, Ince Z, Dantas M F, Fowler B, Baumgartner M R, Demir F, Can G, Demirkol M

Abstract excerpt

A patient with a severe neonatal variant of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous Turkish parents presented on the second day of life with dehydration, cyanosis, no sucking, generalized muscular hypotonia, encephalopathy, respirat...

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Source

Identifiers

PMID: 15877210
DOI: 10.1007/s10545-005-4559-8

Genes

MCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15877210-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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