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Article

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.

Journal of inherited metabolic disease - 1 Sept 2017

Nochi Zahra, Olsen Rikke Katrine Jentoft, Gregersen Niels

Abstract excerpt

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized by the presence of increased butyrylcarnitine and ethylmalonic acid (EMA) concentrations in plasma and urine. Individuals with symptomatic SCADD may show relatively severe phenotype, while the majority of those who are diagnosed through newborn screening by tandem mass...

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PMID: 28516284
DOI: 10.1007/s10545-017-0047-1

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