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Article

Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

European journal of pediatrics - 1 Mar 1992

Matsubara Y, Narisawa K, Tada K

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency. This mutation is responsible for about 90% of mutant MCAD alleles in Caucasians....

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Identifiers

PMID: 1601002
DOI: 10.1007/BF01954373

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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