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Article

Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency.

Journal of paediatrics and child health - 1 Jun 1993

Christodoulou J, Clarke J T, Rupar C A, Gordon B A, Kelly D P

Abstract excerpt

A male infant is reported who died suddenly and who at post-mortem had pathological evidence suggestive of a genetic defect of fatty acid beta-oxidation. A specific diagnosis could not be made enzymatically because of unavailability of suitable tissue for assay. The diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency was made by specific mutation analysis using the polymerase chain reaction and DNA...

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Source

Identifiers

PMID: 8518011
DOI: 10.1111/j.1440-1754.1993.tb00496.x

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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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