title: Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
abstract: A deficiency in hypoxanthine guanine phosphoribosyltransferase (HPRT) activity leads to overproduction of uric acid. According to the degree of enzymatic deficiency, a large spectrum of neurologic features can also be observed, ranging from mild or no neurologic involvement to complete Lesch-Nyhan disease. Herein, we describe a patient with hyperuricemia, juvenile-onset gouty arthritis, nephrolithiasis, and mild neurologic symptoms, attributed to a newly identified variant of the hprt gene, c.596T>G, resulting in the amino acid change p.F199C. Residual HPRT activity (8%) protected against severe neurologic involvement in this patient. Modeling of the mutated protein was used to predict the mechanisms that led to partial enzymatic activity. Careful neurologic examination is warranted in juvenile and middle-aged patients with gout, in order to detect mild symptoms that may lead to a diagnosis of HPRT deficiency.
authors: Hôpital Lariboisière, INSERM UMR-S 606, Paris, France.
authors: Hang-Korng
authors: HK
authors: Ea
authors: Thomas
authors: T
authors: Bardin
authors: H A
authors: HA
authors: Jinnah
authors: Bernard
authors: B
authors: Aral
authors: Frédéric
authors: F
authors: Lioté
authors: Irène
authors: I
authors: Ceballos-Picot
mesh_terms: D000328:Adult; D015210:Arthritis, Gouty / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D053040:Nephrolithiasis / Q000175:diagnosis / Q000235:genetics*; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase