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Article

High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies.

Pediatric research - 1 Jul 1998

Martinez G, Garcia-Lozano J R, Ribes A, Maldonado M D, Baldellou A, de Pablo R, Nuñez-Roldan A

Abstract excerpt

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is recognized as the most common hereditary defect of fatty acid oxidation in humans. Death is the outcome of the first attack in about 25% of cases. A point mutation (A to G [corrected] at position 985) of the MCAD gene represents more than 90% of alleles causing MCAD deficiency. The frequency of this allelic variant exhibits considerable geographical...

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Identifiers

PMID: 9667375
DOI: 10.1203/00006450-199807000-00013

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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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High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies.PMID 9667375Read ↗

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Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.Semantic proximity Read ↗

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The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene: high prevalence in the Swiss population resident in Geneva.Semantic proximity Read ↗

Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS).Semantic proximity Read ↗

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Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.Semantic proximity Read ↗

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