Hypoxanthine-guanine phosphoribosyl transferase deficiency.
In man congential lack of enzyme of the purine salvage system, hypoxanthineguanine phosphoribosyl transferase (HG-PRT E.C. 2.4.2.8), is mostly accompanied by a picture known as the Lesch-Nyhan snydrome.  The degree of deficiency may vary from zero to a few percent of normal activity but a correlation between the severity of HG-PRT deficiency and the clinical picture has not been observed, no more than a correlation HG-PRT deficiency and neurological dysfunction.  But individuals with undetectable HG-PRT activity but without the Lesch-Nyhan syndrome have been described.  Patients with partial HG-PRT defiency have clinically distinctive findings.  Sometimes mild neurological abnormalities are observed.  Because of marked overproduction of ric acid severe gouty arthritis and renal dysfunction are often encountered in both complete and partial deficiency.  There is considerable molecular heterogeneity in HG-PRT deficiency in man.  Mutant ebnzymes may exhibit different kinetic and electrophoretic properties, indicating that hterwe might be a mutation on the structural gene coding for HG-PRT.  Lack of HG-PRT disturbs purine interconversions profoundly.  In addition to an important function of HG-PRT in the uptake of the purine hypoxantine and guanine into the cell, the effective uptake of inosine, guanosine and adenosine also seems to be dependent on HG-PRT...
D000818:Animals; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005796:Genes; D005816:Genetic Complementation Test; D008040:Genetic Linkage; D006073:Gout / Q000235:genetics; D006197:Hair / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D006822:Hybrid Cells; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome; D008214:Lymphocytes; D008297:Male; D051379:Mice; D009154:Mutation; D009461:Neurologic Manifestations; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011685:Purine Nucleotides / Q000096:biosynthesis; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D012730:Sex Chromosomes
D011685:Purine Nucleotides; D007041:Hypoxanthine Phosphoribosyltransferase