Browse > Article

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)
Publication Information
Clinical and Experimental Pediatrics / v.49, no.3, 2006 , pp. 258-267 More about this Journal
Abstract
Purpose : We have done this retrospective study to know the relative incidence and clinical manifestations of organic acidopathies in Korea during 8 years(from Jul. 1997 to May 2005). This results of organic acid analysis of 1,787 patients were compared with the results of organic acid analysis that were published three years ago. Methods : The results of quantitative organic acid analysis of samples of 1788 patients, referred from Jul. 1997 to May 2005, were analyzed retrospectively according to four age group(-2 mon, 3 mon-2 years, 3-12 years) and major clinical manifestations. Quantification of 83 organic acids was done with gas chromatography and mass spectometry. Results : We diagnosed 470 patients with 27 diseases of organic acid metabolism during this study period. Diseases found more than 10 cases are cytosolic 3-ketothiolase deficiency, mitochondrial respiratory chain disorders, PDHC deficiency, mitochondrial 3-ketothiolase deficiency, glutaric aciduria type II, biotinidase deficiency, methylmalonic aciduria and propionic aciduria. Other diseases were diagnosed in less than 10 cases. Conclusion : Though the incidence of individual organic acidemia is low, the overall incidence of organic acidemia as a whole seems to be relatively high in Korea. Compared with the results of organic acid analysis that were reported three years ago, we couldn't find a new disease and the difference of the relative incidences of high incident diseases. We were apprehensive of the errors that was owing to the short study period(3 years), but the relative incidences of our study(8 years) were similar to the results of organic acid analysis that were reported three years ago.
Keywords
Organic acid; Organic acidemia; Korea; Neurologic dysfunction;
Citations & Related Records
연도 인용수 순위
  • Reference
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