Organic acidemias in Korea - Eight years experience of organic acid analysis - |
Bang, Jun Suck
(Department of Pediatrics, College of Medicine, Hallym University)
Lim, Si Hong (Department of Pediatrics, College of Medicine, Hallym University) Lee, Kyung Hwa (Department of Pediatrics, College of Medicine, Hallym University) Bae, Eun Joo (Department of Pediatrics, College of Medicine, Hallym University) Park, Won Il (Department of Pediatrics, College of Medicine, Hallym University) Lee, Hong Jin (Department of Pediatrics, College of Medicine, Hallym University) |
1 | Cohen RD, Woods HF. Clinical and biochemical aspects of lactic acidosis. Oxford : Blackwell Scientific, 1976 |
2 | Amendt BH, Rhead WJ. The multiple acylcoenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic- adipic aciduria : mitochondrial fatty acid oxidation, acylcoenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. J Clin Invest 1986;78:205- 13 DOI |
3 | Sweetman L, Williams JC. Branched chain organic acidurias. In : Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 7th ed. NewYork : McGraw-Hill, 1995:1387-422 |
4 | Barth PG, Hoffman GF, Jaeken J, Wanders RJ, Duran M, Jansen GA, et al. L-2-hydroxyglutaric acidemia:clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 1993;16:753-61 DOI |
5 | Haworth JC, Booth FA, Chudley AE, deGroot GW, Dilling LA, Goodman SI, et al. Phenotypic variability in glutaric aciduria type I : Report of fourteen cases in five Canadian Indian kindreds. J Pediatr 1991;118:52-8 DOI |
6 | Campistol J, Ribes A, Alvarez L. Glutaric aciduria type I unusual biochemical presentation. J Pediatr 1992;121:83-6 DOI |
7 | Wolf B, Grier RE, Allen RJ. Biotinidase deficiency : the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 1983;131:273-8l DOI ScienceOn |
8 | Fenton WA, Rosenberg LE. Disorders of propionate and methylmalmate metabolism. In : Scriver CR, Beaudet AL, Sly WS, Vane D, editors. The metabolic and molecular bases of inherited disease. 7th ed. New York : McGraw-Hill, 1995:1423-49 |
9 | Taubman B, Hale DE, Kelley RI. Familial Reye-like syndrome : a presentation of medium chain acylcoenzyme A dehydrogenase deficiency. Pediatrics 1987;79:382-5 |
10 | 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 |
11 | Sewell AC, Herwig J, Bohles H. A new case of shortchain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr 1993;152:922-4 DOI |
12 | Choi YJ, Kim IC, Choi YK, Lee HJ, Kim BS, Park WI, et al. Normal values of urine organic acid. J Korean Pediatr Soc 2001;32:1413-23 |
13 | Halle DE, Stanley CA, Coates PM. The long-chain acyl coenzyme A dehydrogenase deficiency. Prog Clin Biol Res 1990;321:303-11 |
14 | Scriver CR, Beaudet AL, Sly WS. The metabolic basis of inherited disease. 6th ed. New York : McGraw Hill, 1989 |
15 | Gibson KM, Elpeleg ON, Jakobs C, Costeff H, Kelley RI. Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol 1993;9:120-3 DOI ScienceOn |
16 | Rosenblatt DS, Cooper BA. Inherited disorders of vitamin B12 utilization. Bioassays 1990;12:331-4 DOI |
17 | Whelan DT, Hill RE, McClorry S. Fumaric aciduria : a new organic aciduria, associated with mental retardation and speech impairment. Clin Chim Acta 1983;132:301-8 DOI ScienceOn |
18 | Robinson BH. Lactic acidemia. Biochim Biophys Acta 1993; 1182:231-44 DOI ScienceOn |
19 | Shin DW, Huh J, Park WI, Lee KJ, Lee HJ, Shin YS, et al. XP 21 contiguous gene deletion syndrome accompanied by Hyperglycerolemia congenital adrenal hypoplasia and Duchenne muscular dystrophy. J Korean Pediatr Soc 2001; 44:83-8 |
20 | Leonard JV, Seakins JW, Bartlett K. Inherited disorders of 3-methylcrotonyl CoA carboxylation. Arch Dis Child 1981; 56:33-9 |
21 | Chuang DT, Shih VE. Disorders of branched chain aminoacid and ketoacid. In : Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 7th ed. New York : McGraw-Hill, 1995: 1239-77 |
22 | Frerman FE, Goodman SI. Deficiency of electron transfer flavoprotein or electron flavoprotein : ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. Proc Natl Acad Sci USA 1985;82:4517-20 |
23 | Gibson KM, Craigen W, Herman GE. D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities:a new neurometabolic diorder. J Inherit Metab Dis 1993;16:497-500 DOI |
24 | Ledley FD, Levy HL, Shih VE. Benign methylmalonic aciduria. N Engl J Med 1984;311:1015-8 DOI ScienceOn |
25 | Sweetman L, Nyhan WL. Inheritable biotin-treatable disor-ders and associated phenomena. Annu Rev Nutr 1986:6317-43 |
26 | Howat AJ, Bennett MJ, Variend S, Shaw L, ENgel PC. Defects of metabolism of fatty acids in the sudden infant death syndrome. Br Med J 1985;290:1771-3 DOI |
27 | Frerman FE, Goodman SI. Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric aciduria type II. In: S criver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York : McGraw-Hill, 1995:1611-29 |
28 | Duran M, Hofkamp M, Rhead WJ, Saudubray JM, Wadman SK. Sudden child death and 'healthy' affected family members with medium chain acylcoenzyme A dehydrogenase deficiency. Pediatrics 1986;78:1052-7 |
29 | Lee HJ, Moon HN. Experiences about congenital metabolic disorder during 17 years. J Korean Pediatr Soc 1990;33:3031-6 |
30 | Ledley FD, Crane AM, Lumetta M. Heterogenous alleles and expression of methylmalonyl CoA mutase in methylmalonic acidemia. Am J Hum Genet 1990;46:539-47 |
31 | Hoffmann GF, Hunneman DH, Jacobs C, Wilichowski E, Eber SW, Hanefeld F, et al. Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia. J Inherit Metab Dis 1990;13:337-40 DOI |
32 | Choi YK, Kim US, Bae EJ, Park WI, Lee KJ, Lee HJ. Organic Acidemias in Korea. Three Years Exprerience of Organic Acid Analysis. J Korean Pediatr Soc 2002;45:1346-58 |
33 | Lehotay DC, Clarke JTR. Organic acidurias and related abnormalities. Crit Rev Clin Lab Sci 1995;32:377-429 DOI |