Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

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Article

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

American journal of human genetics - 1 Dec 1991

Yokota I, Coates P M, Hale D E, Rinaldo P, Tanaka K

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty-acid oxidation that is characterized by fasting intolerance and recurrent episodes of hypoglycemic coma which can be fatal. Its incidence is one of the highest among genetic metabolic disorders. Using a modified PCR...

Topics

Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases
Adenine Nucleotides
Alleles
Base Sequence
Cells, Cultured
Culture Techniques
Fibroblasts
Gene Frequency
Genetic Variation
Guanine Nucleotides
Humans
Lipid Metabolism, Inborn Errors
Molecular Sequence Data

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Restriction Mapping

Source

Open in PubMed Open full text

Identifiers

PMID: 1684086
PMCID: PMC1686456

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1684086-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.