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A Case of asymptomatic Short-chain Acyl-CoA Dehydrogenase Deficiency  

Lee, Hwapyung (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Kim, Jinsup (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Huh, Rimm (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Cho, Sung Yoon (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Jin, Dong-Kyu (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.15, no.2, 2015 , pp. 98-100 More about this Journal
Abstract
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty-acid oxidation disorder that is inherited as an autosomal recessive pattern. SCAD deficiency is caused by mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885), which encodes SCAD, the mitochondrial enzyme that catalyzes the first reaction in the beta-oxidation of fatty acids four to six carbons in length. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening through tandem mass spectrometry. An increased concentration of butyrylcarnitine was detected on the newborn screening test, and the urine organic acid analysis showed increased urinary excretion of ethylmalonic acid. The patient has been asymptomatic and has shown normal growth and development by 8 months of age without any intervention during follow-up period.
Keywords
Short chain acyl-CoA dehydrogenase (SCAD); Tandem mass spectrometry;
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