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Article

Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.

Journal of neuroscience research - 15 Sept 2001

Surendran S, Sacksteder K A, Gould S J, Coldwell J G, Rady P L, Tyring S K, Matalon R

Abstract excerpt

Malonyl CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis. Based on reports of MCD deficiency, this enzyme is particular important in muscle and brain metabolism. Mutations in the MCD gene result in a deficiency of MCD activity, that lead to psychomotor retardation, cardiomyopathy and neonatal death. To date however, only a few patients have been reported with defects in...

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Identifiers

PMID: 11550227
DOI: 10.1002/jnr.1189

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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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