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.
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