A Case of asymptomatic Short-chain Acyl-CoA Dehydrogenase Deficiency
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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) |
1 | Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, et al. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest 1987; 79:1303-9. DOI |
2 | Pedersen CB, Kolvraa S, Kolvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, et al. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet 2008; 124:43-56. DOI |
3 | Naito E, Ozasa H, Ikeda Y, Tanaka K. Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency. J Clin Invest 1989;83:1605- 13. DOI |
4 | Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt- Sommerfeld E, Hale DE. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 1995;126:910-5. DOI |
5 | Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, et al. Role of common gene variations in the molecular pathogenesis of shortchain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001;49:18-23. DOI |
6 | Jethva R, Ficicioglu C. Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening. Mol Genet Metab 2008;95:241-2. DOI |
7 | Jethva R, Bennett MJ, Vockley J. Short-chain acylcoenzyme A dehydrogenase deficiency. Mol Genet Metab 2008;95:195-200. DOI |
8 | Moczulski D, Majak I, Mamczur D. An overview of beta-oxidation disorders. Postepy Hig Med Dosw (Online) 2009;63:266-77. |
9 | Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, et al. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab 2008;95:39-45. DOI |
10 | van Maldegem BT, Wanders RJ, Wijburg FA. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2010;33: 507-11. |
11 | Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003; 348:2304-12. DOI |
12 | Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, et al. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab 2012;106:55-61. DOI |
13 | Kim SH, Park HD, Sohn YB, Park SW, Cho SY, Ji S, et al. Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency. Ann Clin Lab Sci 2011;41:84-8. |
14 | Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, et al. Medium-chain acyl- CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab 2006;87:32-9. DOI |
15 | Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, et al. Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with shortchain acyl-CoA dehydrogenase deficiency. Hum Genet 2010;127:619-28. DOI |
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