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Article

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.

Journal of inherited metabolic disease - 1 Jan 2005

van Maldegem B T, Waterham H R, Duran M, van der Vlies M, van Woerden C S, Bobu L L, Wanders R J A, Wijburg F A

Abstract excerpt

The 625G>A variant of the short-chain acyl-CoA dehydrogenase (SCAD) gene is considered to confer susceptibility for developing 'clinical SCAD deficiency' and appears to be common in the general population. To determine the frequency of the 625G>A variant in The Netherlands, we analysed 1036 screening cards of 5- to 8-day-old newborns and found 5.5% homozygous and 31.3% heterozygous for the 625G>A variant. An...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15902559
DOI: 10.1007/s10545-005-0557-0

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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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The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.PMID 15902559Read ↗

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