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) |
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. 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 | Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab 2003;78:239-46. DOI |
4 | 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 |
5 | Mikati MA, Chaaban HR, Karam PE, Krishnamoorthy KS. Brain malformation and infantile spasms in a SCAD deficiency patient. Pediatr Neurol 2007;36:48-50. DOI |
6 | van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, et al. Clinical biochemical and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 2006;296:943-52. DOI |
7 | Bok LA, Vreken P, Wijburg FA, Wanders RJ, Gregersen N, Corydon MJ, et al. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics 2003;112:1152-5. DOI |
8 | American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system-executive summary. Pediatrics 2006;117:S296-307. DOI |
9 | 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 |
10 | Corydon MJ, Andresen BS, Bross P, Kjeldsen M, Andreasen PH, Eiberg H, et al. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. Mamm Genome 1997;8:922-6. DOI |
11 | Jethva R, Bennett MJ, Vockley J. Short-chain acylcoenzyme A dehydrogenase deficiency. MolGenet Metab 2008;95:195-200. DOI |
12 | 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 |
13 | Gregersen N, Andresen BS, Pedersen CB, Olsen RK, Corydon TJ, Bross P. Mitochondrial fatty acid oxidation defects-remaining challenges. J Inherit Metab Dis 2008;31:643-57. DOI |
14 | 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. |
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