Korean J Pediatr.  2006 Mar;49(3):258-267. 10.3345/kjp.2006.49.3.258.

Organic acidemias in Korea: Eight years experience of organic acid analysis

• Bang JS
• Lim SH
• Lee KH
• Bae EJ
• Park WI
• Lee HJ

• KMID: 2278583
• DOI: http://doi.org/10.3345/kjp.2006.49.3.258

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.

Keyword

Organic acid; Organic acidemia; Korea; Neurologic dysfunction

MeSH Terms

Acetyl-CoA C-Acyltransferase
Biotinidase Deficiency
Chromatography, Gas
Cytosol
Electron Transport
Humans
Incidence
Korea*
Metabolism
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Neurologic Manifestations
Propionic Acidemia
Pyruvate Dehydrogenase Complex Deficiency Disease
Retrospective Studies
Acetyl-CoA C-Acyltransferase