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고요산 혈증을 나타낸 부분적 Hypoxanthine Guanine Phosphoribosyltransferase ( HGPRT ) 결핍 1 예
허원영(Weon Young Huh),신성혜(Sung Hye Shin),이순형(Soon Hyung Lee),양성욱(Seong Wook Yang),강대송(Dae Song Kang),김미애(Mi Ae Kim),이용웅(Yong Ung Lee),이광영(Kwang Young Lee) 대한내과학회 1995 대한내과학회지 Vol.48 No.5
Hypoxanthine-guanine phosphoribosyltransferase deficiency is an inborn error of purine metabolism, and transmitted by X-linked recessive trait. complete deficiency of the enzyme causes the Lesch-Nyhan syndrome which is characterized by hyperuricemia, hyperuricaciduria, severe neurologic dysfunction including hyper-reflexia, choreo-athetosis, mental retardation and self mutilation. Partial deficiency of the enzyme causes uric acid overproduction and uric acid nephrolithiasis, but does not manifest neurologic dysfunction. We report a case of partial hypoxanthine-guanine phosphoribosyltransferase deficiency. The enzyme activity, measured by high performance liquid chromatography from erythrocyte lysate, was 23.7% of normal control. The patient exhibited hyperuricemia, bladder stone, and growth retardation, without neurologic manifestation.