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Organic Acidemias in Korea - Three Years Experience of Organic Acid Analysis -

Journal of the Korean Pediatric Society 2002;45(11):1346-1358.
Published online November 15, 2002.
Organic Acidemias in Korea - Three Years Experience of Organic Acid Analysis -
You Kyoung Choi, Eung Seok Kim, Eun Joo Bae, Won Il Park, Kyung Ja Lee, Hong Jin Lee
Department of Pediatrics, College of Medicine, Hallym University, Chunchon, Korea
한국의 유기산혈증-유기산 분석 3년의 정리
최유경, 김응석, 배은주, 박원일, 이경자, 이홍진
한림대학교 의과대학 소아과학교실
Correspondence: 
Hong Jin Lee, Email: hongjlee@hallym.ac.kr
Abstract
Purpose
: We have done this retrospective study to know the relative incidences and clinical manifestations of organic acidopathies in Korea.
Methods
: The results of quantitative organic acid analysis of 1,125 samples of 712 patients, referred from Jul. 1997 to Jun. 2000, were analyzed retrospectively according to four age groups (-2 mon, 3 mon-2 year, 3 years-12 years, over 12 years) and major clinical manifestations. Quantification of 83 organic acids was done with gas chromatography and mass spectrometry(GC/MS).
Results
: We diagnosed 214 patients with 27 diseases of organic acid metabolism during this study period. Diseases found more than 10 cases are cytosolic 3-ketothiolase deficiency, mitochondrial repsiratory chain disorders, PDHC deficiency, glutaric aciduria type II and propionic aciduria. Other diseases were diagnosed in less than 10 cases, mostly one or two cases during this study period. Most of the patients had some symptoms of neurological dysfunction such as seizure activity(195 patients), developmental delay(122), mental retardation(99), hypotonia(84), movement disorders(81) and vomiting(68).
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. Most of the patients showed some signs of neurological dysfunction.
Key Words: Organic acid, Organic acidemia, Organic aciduria, Korea, Neurological dysfunction


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