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Article

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.

Molecular genetics and metabolism - 1 Jan 2006

Waddell Leigh, Wiley Veronica, Carpenter Kevin, Bennetts Bruce, Angel Lyn, Andresen Brage S, Wilcken Bridget

Abstract excerpt

The fatty acid oxidation disorder most commonly identified by tandem mass spectrometry newborn screening is the potentially fatal medium-chain acyl-CoA dehydrogenase deficiency (MCAD). In clinically presenting cases, 80% are homozygous for the common mutation, c.985A > G and 18% heterozygous. We screened 592,785 babies and identified 34 with MCAD, 17 homozygous for c.985A > G, 14 with one copy, and 3 with no...

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Identifiers

PMID: 16291504
DOI: 10.1016/j.ymgme.2005.09.020

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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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