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A Case of Short-chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening  

Park, Kyungwon (Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University college of Medicine)
Ko, Jung Min (Department of Pediatrics, Seoul National University College of Medicine)
Jung, Goun (Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University college of Medicine)
Lee, Hee Chul (Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University college of Medicine)
Yoon, So Young (Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University college of Medicine)
Ko, Sun Young (Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University college of Medicine)
Lee, Yeon Kyung (Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University college of Medicine)
Shin, Son Moon (Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University college of Medicine)
Park, Sung Won (Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University college of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.15, no.1, 2015 , pp. 40-43 More about this Journal
Abstract
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.
Keywords
Short chain Acyl CoA dehydrogenase deficiency; SCAD; ACADS gene;
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