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KMID : 0918520150150020098
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 2 p.98 ~ p.100
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A Case of asymptomatic Short-chain Acyl-CoA Dehydrogenase Deficiency
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Lee Hwa-Pyung
Kim Jin-Sup
Huh Rimm
Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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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.
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KEYWORD
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Short chain acyl-CoA dehydrogenase (SCAD), Tandem mass spectrometry
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