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KMID : 0918520150150020093
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 2 p.93 ~ p.97
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Short-chain Acyl-CoA Dehydrogenase Deficiency in an Asymptomatic Neonate
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Lee Yeon-Hee
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 an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.
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KEYWORD
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Short-chain acyl-CoA dehydrogenase (SCAD), ACADS gene, Tandem mass spectrometry
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