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Article

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Molecular genetics and metabolism - 1 Mar 2000

Yang B Z, Ding J H, Zhou C, Dimachkie M M, Sweetman L, Dasouki M J, Wilkinson J, Roe C R

Abstract excerpt

A novel mutation was identified in two unrelated patients with medium-chain acyl-CoA dehydrogenase deficiency. First, a 19-year-old Caucasian female presented with a devastating illness, resulting in sudden death in adulthood which is unusual. The second patient, now a 3.5-year-old male, presented at 17 months of age with a hypoglycemic seizure and dehydration. Sequence analysis revealed a novel mutation G617T in...

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Source

Identifiers

PMID: 10767181
DOI: 10.1006/mgme.2000.2978

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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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