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Organic acidemias in Korea - Eight years experience of organic acid analysis -
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유기산혈증-유기산 분석 8년의 정리

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Type
Academic journal
Author
Bang, Jun Suck (한림대학교 의과대학 춘천성심병원 소아과) Lim, Si Hong (한림대학교 의과대학 춘천성심병원 소아과) Lee, Kyung Hwa (한림대학교 의과대학 춘천성심병원 소아과) Bae, Eun Joo (한림대학교 의과대학 춘천성심병원 소아과) Park, Won Il (한림대학교 의과대학 춘천성심병원 소아과) Lee, Hong Jin (한림대학교 의과대학 춘천성심병원 소아과)
Journal
대한소아청소년과학회 Clinical and Experimental Pediatrics Korean journal of pediatrics 제49권 제3호 SCOPUS
Published
2006.1
Pages
258 - 267 (10page)

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Organic acidemias in Korea - Eight years experience of organic acid analysis -
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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.
#Organic acid #Organic acidemia #Korea #Neurologic dysfunction

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