title: Molecular and tissue-specific heterogeneity in HPRT deficiency.
abstract: In several patients with different degrees of HPRT deficiencies, residual activities have been determined in both lysed and intact erythrocytes. No close correlation could be found between the degree of HPRT deficiency and the severity of the clinical expression. Unless HPRT activity in both intact and lysed erythrocytes was below detection level, the residual activity in intact red blood cells was higher than in lysates. Tissue-specific heterogeneity was illustrated with a patient suffering from X-linked gout. Lysates from erythrocytes, leukocytes, and cultured fibroblasts showed 1%, 8%, and 100% of normal HPRT activity, respectively. Characterization of the erythrocyte and fibroblast HPRT from this patient showed no kinetic abnormalities. However, there was a decreased heat stability. It is concluded that for a better understanding of the pathophysiology in HPRT deficiency studies on nucleated cells from the different tissues are needed.
mesh_terms: D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D008040:Genetic Linkage; D006073:Gout / Q000201:enzymology* / Q000235:genetics; D006358:Hot Temperature; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000378:metabolism*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics; D007962:Leukocytes / Q000201:enzymology*; D010641:Phenotype; D014960:X Chromosome
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase