title: Purine nucleoside phosphorylase deficiency: biochemical properties and heterogeneity in two families.
abstract: The biochemical features of two families with purine nucleoside phosphorylase deficiency are compared. Laboratory studies and an evaluation of kinetic and physical properties of erythrocyte purine nucleoside phosphorylase give evidence that a) the degree of abnormality in uric acid and nucleoside concentrations in plasma and urine reflect the severity of the enzymatic deficiency and b) structural alterations of the mutant enzymes result from structural gene mutations and demonstrate genetic heterogeneity in the disease purine nucleoside phosphorylase deficiency.
mesh_terms: D002648:Child; D002675:Child, Preschool; D002850:Chromatography, Gel; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007525:Isoelectric Focusing; D007700:Kinetics; D008297:Male; D008970:Molecular Weight; D009705:Nucleosides / Q000097:blood / Q000652:urine; D010084:Oxidation-Reduction; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D011854:Radiochemistry; D014527:Uric Acid / Q000097:blood / Q000652:urine
chemical_list: D009705:Nucleosides; D014527:Uric Acid; D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase