title: Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
abstract: Different degrees of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency are associated with hyperuricemia, uric acid nephrolithiasis and severe gout. Up to 25-30% of HPRT deficient patients, indicated as neurological variants or HPRT-related hyperuricemia with neurological dysfunction (HRND), may develop neurological manifestation, from mild to severe; the most serious ones manifesting in the devastating Lesch-Nyhan syndrome, characterized by choreoathetosis or self-mutilation. Here we present a 30 years old male patient suffering from gout and mild psycho-motor impairment without Lesch Nyhan disease despite severe HPRT deficiency residual activity 0.02% with hypoxanthine, no activity at all with guanine as a substrate. The Curto's theory that neurologic impairment is dependent on VGPRT/VHPRT ratio is not confirmed by our observations. The finding of such a severe HPRT deficiency in a non-Lesch-Nyhan patient needs further investigation. G6PD deficiency was also referred together with beta-thalassemic trait. We have studied purine and pyridine nucleotide metabolism in the erythrocytes and discussed the literature. The bone marrow sample shows a megaloblastyc aspect.
authors.affiliation: Dipartimento-Struttura Clinica Medica-Patologia Speciale Medica, Cattedra e Scuola di Specializzazione in Reumatologia, Università degli Studi di Sassari, Viale San Pietro 8, 07100 Sassari, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Cossu
authors.forename: V
authors.initials: V
authors.lastname: Micheli
authors.forename: G
authors.initials: G
authors.lastname: Jacomelli
authors.forename: A
authors.initials: A
authors.lastname: Carcassi
mesh_terms: D000328:Adult; D000493:Allopurinol / Q000627:therapeutic use; D001854:Bone Marrow Cells / Q000473:pathology; D006073:Gout / Q000188:drug therapy / Q000209:etiology / Q000473:pathology; D006074:Gout Suppressants / Q000627:therapeutic use; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D008297:Male
chemical_list: D006074:Gout Suppressants; D000493:Allopurinol; D007041:Hypoxanthine Phosphoribosyltransferase