Korean Journal of Pediatrics 2006;49(3):258-267.
Published online March 15, 2006.
Organic acidemias in Korea - Eight years experience of organic acid analysis -
Jun Suck Bang, Si Hong Lim, Kyung Hwa Lee, Eun Joo Bae, Won Il Park, Hong Jin Lee
Department of Pediatrics, College of Medicine, Hallym University, Chunchon, Korea
유기산혈증-유기산 분석 8년의 정리
방준석, 임시홍, 이경화, 배은주, 박원일, 이홍진
한림대학교 의과대학 춘천성심병원 소아과
Correspondence: 
Hong Jin Lee, Email: hongjlee@hallym.ac.kr
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.
Key Words: Organic acid , Organic acidemia , Korea , Neurologic dysfunction


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