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Article

Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling.

Pediatric pathology - 1 Jan 2000

Bennett M J, Rinaldo P, Millington D S, Tanaka K, Yokota I, Coates P M

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder of fatty acid oxidation associated with sudden death in infants and, in its fulminant form(s), a Reye-like syndrome. In an 18-month-old female who died suddenly and unexpectedly, the postmortem diagnosis of MCAD deficiency was made by analysis of organic acids, acylglycines, and acylcarnitines and by analysis of the most common...

Topics

Acyl-CoA Dehydrogenases
Antisense Elements (Genetics)
Base Sequence
Cadaver
Carnitine
Child, Preschool
DNA
Female
Homozygote
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Sudden Infant Death

Source

Identifiers

PMID: 1775402
DOI: 10.3109/15513819109065485

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1775402-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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