title: Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
abstract: The hypoxanthine-guanine phosphoribosyltransferase deficiency is an inborn error of purine metabolism, linked to the X chromosome. The clinical phenotypes associated with HPRT deficiency varied according to the level of enzyme deficiency, with a large spectrum of neurologic features like self-injurious behaviour in patients with complete deficiency. We report a 20-year-old man who had asymmetric polyarthritis, tophi, hyperuricemia, nephrolithiasis and mild neurologic symptoms with undetectable levels of HPRT activity in lysed erythrocytes. The genetic study identified the c.143G>A mutation in exon 3, GAA CGT (CTT>GAA CAT CTT (48arg>his). The presence of gouty arthropathy and chronic hyperuricemia in a young patient with neurological symptoms, suggests HPRT deficiency for which it is necessary its enzyme and molecular determination.
authors.affiliation: División Reumatología, Hospital de Clínicas José de San Martín, Buenos Aires, Argentina.
authors.forename: Ana
authors.initials: A
authors.lastname: Sapag
authors.forename: Eduardo
authors.initials: E
authors.lastname: Frischling
authors.forename: Hugo
authors.initials: H
authors.lastname: Laborde
mesh_terms: D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D055815:Young Adult
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase