|
KMID : 0371219940160010020
|
|
Medical Bulletin of the Presbyterian Medical Center
1994 Volume.16 No. 1 p.20 ~ p.24
|
|
|
A Case of Partial Deficiency of Hypoxanthine Guanine Phosphoribosyltransferase with hyperuricemia
|
|
허원영
신성혜/이순형/양성욱/강대송/김미애/이용웅/이광영
|
|
|
Abstract
|
|
|
Hypoxanthing-guanine Phosphoribosyltransferase dificiency is an inborn error of purine metabolism, and transmitted by X-linked recessive trait. Complete deficiency f the enzyme causes the Lesch-Nyhan syndrome which is characterized by
hyperuricemia,
hyperuricaciduria, severe neurologic dysfunction including hyperreflexia, choreoathetosis, mental retardation and self mutilation, Partial deficiency of the enzyme causes uric acid overproduction and unc acid nephrolithiasis, but does not
manifest
neurologic dysfunction.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|