A Family of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency without Neurological Disorders

抄録

A patient is reported with X-linked hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. 1. He had a juvenile gout with excessive urate excretion but lacked any neurological symptoms usually present in the Lesch-Nyhan syndrome. 2. The patient had negligible HGPRT activity (0.07% of normal) in erythrocytes. 3. Autoradiography of fibloblast cultures revealed no uptake of ³H-hypoxanthine. The fibloblasts of his mother and two sisters were all mosaic in uptake of labelled hypoxanthine and shown to be heterozygotes. 4. This case is the first reported case of complete deficiency of HGPRT without neurological disorders, which is proved to be inherited as a X-linked recessive trait by an autoradiographic study of cultured skin fibloblasts of his family.