title: A missense mutation in the hypoxanthine phosphoribosyltransferase gene in a pediatric patient with hyperuricemia.
abstract: We have identified a mutation in the gene coding for the enzyme hypoxanthine phosphoribosyltransferase in a pediatric patient with hyperuricemia and nephrolithiasis. The mutation is a nucleotide substitution causing an amino acid substitution in the hypoxanthine phosphoribosyltransferase protein. In this patient, fibroblasts but not lymphocytes showed resistance to 6-thioguanine, and reduced enzyme activity was detected in lymphocytes. These results are consistent with the intermediary phenotype associated with partial hypoxanthine phosphoribosyltransferase enzyme deficiency. Altogether, six males in this family suffered from hyperuricemic symptoms, and small differences in phenotype were seen.
authors.affiliation: Environmental Medicine Unit, Karolinska Institute, CNT/Novum, Hudding, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Marcus
authors.forename: S
authors.initials: S
authors.lastname: Sahlén
authors.forename: B
authors.initials: B
authors.lastname: Lambert
authors.forename: G
authors.initials: G
authors.lastname: Wettrell
mesh_terms: D000328:Adult; D015210:Arthritis, Gouty / Q000201:enzymology / Q000235:genetics; D002478:Cells, Cultured; D002908:Chronic Disease; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007669:Kidney Calculi / Q000201:enzymology / Q000235:genetics; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014527:Uric Acid / Q000097:blood*
chemical_list: D014527:Uric Acid; D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase