title: Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
abstract: Partial hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency, also known as the Kelley-Seegmiller syndrome, can give rise to a wide range of neurological symptoms, and renal insufficiency. Biochemically, it is characterized by high uric acid concentrations in blood, high uric acid and hypoxanthine excretion in urine, and decreased activity of hypoxanthine-guanine phosphoribosyl transferase activity (HGPRT). However, normal uric acid concentrations in blood and uric acid excretions in urine have been reported. Here, a boy is presented with normal development and suffering from recurrent attacks of acute renal failure with slightly to clearly increased urinary uric acid excretion. Between these attacks, episodes of elevated urinary excretion of uric acid were observed with normal blood concentrations of uric acid and normal urinary excretion of hypoxanthine. HGPRT activity in erythrocytes, leukocytes, and fibroblasts was found to be strongly decreased. This case shows that not only normal blood uric acid but also normal urinary hypoxanthine concentrations do not exclude the diagnosis of partial HGPRT deficiency.
authors.affiliation: Section of Pediatric Nephrology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands. c.m.l.van.dael@bkk.umcg.nl
authors.forename: C M L
authors.initials: CM
authors.lastname: van Dael
authors.forename: L J W M
authors.initials: LJ
authors.lastname: Pierik
authors.forename: D J
authors.initials: DJ
authors.lastname: Reijngoud
authors.forename: K E
authors.initials: KE
authors.lastname: Niezen-Koning
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: F J
authors.initials: FJ
authors.lastname: van Spronsen
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology; D000293:Adolescent; D006801:Humans; D019271:Hypoxanthine / Q000652:urine*; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology*; D012016:Reference Values; D014527:Uric Acid / Q000097:blood / Q000652:urine
chemical_list: D014527:Uric Acid; D019271:Hypoxanthine; D007041:Hypoxanthine Phosphoribosyltransferase