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Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.

Annals of clinical and laboratory science - 1 Jul 2016

Kim Yoo-Mi, Cheon Chong-Kun, Park Kyung-Hee, Park SungWon, Kim Gu-Hwan, Yoo Han-Wook, Lee Kyung-A, Ko Jung Min

Abstract excerpt

Short-chain acyl-CoA dehydrogenase (SCAD) catalyzes the first step in mitochondrial short-chain β-oxidation, and its deficiency is caused by mutations in the ACADS We sought to investigate the spectrum ACADS mutations and associated clinical manifestations in Korean patients with SCAD deficiency. The study included ten patients with SCAD deficiency from 8 unrelated families as diagnosed by biochemical profile and...

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PMID: 27466294

Genes

ACADS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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