title: Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).
abstract: A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine-guanine phosphoribosyltransferase is described. The mutation (I136T, HPRT Marseille) is in the phosphoribosylpyrophosphate-binding region of the gene and leads to almost total loss of enzyme activity in erythrocytes, with 5% in lymphocytes. Nevertheless, the patient showed no neurological abnormality.
authors.affiliation: Service de Néphrologie, Hôpital de la Conception, 147 Bd Baille, 13385 Marseille Cedex 05, France. bdussol@mail.ap-hm.fr
authors.forename: B
authors.initials: B
authors.lastname: Dussol
authors.forename: I
authors.initials: I
authors.lastname: Ceballos-Picot
authors.forename: B
authors.initials: B
authors.lastname: Aral
authors.forename: V
authors.initials: V
authors.lastname: Castera
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: Y
authors.initials: Y
authors.lastname: Berland
mesh_terms: D015210:Arthritis, Gouty / Q000201:enzymology; D001665:Binding Sites / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology; D005602:France; D006801:Humans; D033461:Hyperuricemia / Q000201:enzymology; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013577:Syndrome
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase