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Article

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

JAMA - 23 Aug 2006

van Maldegem Bianca T, Duran Marinus, Wanders Ronald J A, Niezen-Koning Klary E, Hogeveen Marije, Ijlst Lodewijk, Waterham Hans R, Wijburg Frits A

Abstract excerpt

CONTEXT: Short-chain acyl-coenzyme A (CoA) dehydrogenase (SCAD) deficiency (SCADD) is an autosomal recessive, clinically heterogeneous disorder with only 22 case reports published so far. Screening for SCADD is included in expanded newborn screening programs in most US and Australian states. OBJECTIVES: To describe the genetic, biochemical, and clinical characteristics of SCADD patients in the Netherlands and...

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Identifiers

PMID: 16926354
DOI: 10.1001/jama.296.8.943

Genes

ACADS

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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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