Proceedings of the PSK Conference (대한약학회:학술대회논문집)
- 2003.10b
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- Pages.214.4-215
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- 2003
Advanced HPLC Diagnostic Method for Galactosemia Using 8-Amino-2- naphthalenesulfonic acid.
- Lee, Sang-Soo (College of Pharmacy, Kyung Hee University) ;
- Hong, Seon-Pyo (Department of Oriental Pharmaceutical Science, Kyung Hee University) ;
- Yoon, Hye-Ran (Seoul Medical Science Institute)
- Published : 2003.10.01
Abstract
In galactose metabolic pathway : there are three inborn metabolic disorders galactokinase deficiency (galactosemia type II), galactose-1-phosphate uridyl transferase(GALT) daficiency (galactosemia type I ), uridine diphosphate galactose-4-epimerase deficiency (galactosemia typeIII). Among these disorders GALT deficiency is the most severe and common. Infants with GALT deficiency fail to metabolize galactose-1-phosphate. As a consequence, galactose-1-phosphate and galactose are accumulated in blood in which GALS enzyme plays the role of a pathognomonic marker. (omitted)
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