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Article

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Journal of inherited metabolic disease - 1 Jan 2000

Rhead William J

Abstract excerpt

As judged by tandem mass spectrometry blood spot screening, the incidence of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is 1:14 600 (CI 95%: 1:13 500-1:15 900) in almost 8.2 million newborns worldwide and is 2- to-3 fold higher than that identified in the same populations after clinical presentation. In mass-screened newborn populations, the 985A>G (K329E) mutation accounts for 54-90% of disease...

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Source

Identifiers

PMID: 16763904
DOI: 10.1007/s10545-006-0292-1

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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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