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KMID : 0918520150150010040
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 1 p.40 ~ p.43
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A Case of Short-chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening
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Park Kyung-Won
Ko Jung-Min
Jung Go-Un
Lee Hee-Chul
Yoon So-Young
Ko Sun-Young
Lee Yeon-Kyung
Shin Son-Moon
Park Sung-Won
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Abstract
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Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive mitochondrial disorder of fatty acid oxidation associated with mutations in the ACADS gene. While patients diagnosed clinically have a variable clinical presentation, patients diagnosed by newborn screening are largely asymptomatic. We describe here the case of a 1-year-old male patient who was detected by newborn screening and diagnosed as SCAD deficiency. Spectrometric screening for inborn errors of metabolism at 72hrs after birth showed elevated butyrylcarnitine (C4) level of 1.69 mol/L (normal, <0.83 mol/L), C4/C2 ration of 0.26 (normal, <0.09), C5DC+C60H level of 39 mol/L (normal, <0.28 mol/L), and C5DC/C8 ration of 7.36 (normal, <4.45). The follow-up testing at 18 days of age were performed: liquid chromatography
tandem mass spectrometry (LC-MS/MS), urine organic acids, and quantitative acylcarnitine profile. C4 carnitine was elevated as 0.91; urine organic acid analysis showed elevated ethylmalonic acid as 62.87 nmol/molCr (normal, <6.5), methylsuccinate 6.81 nmol/molCr (normal, not detected). Sequence analysis of ACADS revealed a homozygous missense mutation, c.164C>T (p.Pro55Leu). He is growing well and no episodes of seizures or growth retardation had occurred.
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KEYWORD
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Short chain Acyl CoA dehydrogenase deficiency, SCAD, ACADS gene
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