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Article

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Ensenauer Regina, Winters Jennifer L, Parton Patricia A, Kronn David F, Kim Jong-Won, Matern Dietrich, Rinaldo Piero, Hahn Si Houn

Abstract excerpt

PURPOSE: In contrast to its high prevalence in Caucasians, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is reported to be an extremely rare metabolic disorder in the Asian population. The common MCAD gene (ACADM) mutation 985A>G (p.K329E), accounting for the majority of cases in Caucasians, has not been detected in this ethnic group, and the spectrum of ACADM mutations has remained unknown. METHOD:...

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Identifiers

PMID: 15915086
DOI: 10.1097/01.gim.0000164548.54482.9d

Genes

ACADM

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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