title: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
abstract: We describe the case of a 1-year-old boy with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. At his first visit to the hospital, he was diagnosed with hyperuricemia and irreversible renal failure. The misssense mutation Asp185Gly (554A>G) was identified in exon 8 of his HPRT gene, and this mutation was inherited from the mother.
authors: Department of Pediatrics, Ehime University Graduate School of Medicine, Touon-City, Ehime, 791-0295, Japan. ishida@m.ehime-u.ac.jp
authors: Yasushi
authors: Y
authors: Ishida
authors: Asako
authors: A
authors: Ishimaru
authors: Hisamichi
authors: H
authors: Tauchi
authors: Akiko
authors: A
authors: Yamaguchi
authors: Masayoshi
authors: M
authors: Yokoyama
authors: Kazuhiro
authors: K
authors: Hiroi
authors: Nobuaki
authors: N
authors: Wakamatsu
authors: Yasukazu
authors: Y
authors: Yamada
mesh_terms: D000493:Allopurinol / Q000627:therapeutic use; D000963:Antimetabolites / Q000627:therapeutic use; D003404:Creatinine / Q000493:pharmacokinetics; D004587:Electrophoresis, Agar Gel; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male; D008657:Metabolic Clearance Rate; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length; D051437:Renal Insufficiency / Q000235:genetics*; D014527:Uric Acid / Q000493:pharmacokinetics
chemical_list: D000963:Antimetabolites; D014527:Uric Acid; D000493:Allopurinol; D003404:Creatinine; D007041:Hypoxanthine Phosphoribosyltransferase