Organic Acidemias in Korea: Three Years Experience of Organic Acid Analysis
Journal of the Korean Pediatric Society
;
: 1346-1358, 2002.
Artigo
em Coreano
| WPRIM
| ID: wpr-119464
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Acetil-CoA C-Aciltransferase
/
Convulsões
/
Doença da Deficiência do Complexo de Piruvato Desidrogenase
/
Incidência
/
Estudos Retrospectivos
/
Cromatografia Gasosa
/
Citosol
/
Deficiência Múltipla de Acil Coenzima A Desidrogenase
/
Acidemia Propiônica
/
Coreia (Geográfico)
Tipo de estudo:
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2002
Tipo de documento:
Artigo
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