Article
Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Annals of clinical and laboratory science - 1 Jan 2011
Kim Se Hwa, Park Hyung-Doo, Sohn Young Bae, Park Sung Won, Cho Sung Yoon, Ji Suntae, Kim Su Jin, Choi Eun Wha, Kim Chi Hwa, Ko Ah-Ra, Yeau Sunghee, Paik Kyung-Hoon, Jin Dong-Kyu
Abstract excerpt
Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation associated with mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885). SCADD is a heterogeneous condition that has been associated with various clinical phenotypes ranging from fetal metabolic decompensation in infancy to asymptomatic individuals. Here,...
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