title: Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia.
abstract: A 15-year-old boy was referred to our department due to gout. The laboratory findings showed hyperuricemia with a decreased erythrocyte hypoxanthine phosphoribosyl transferase (HPRT) activity. The HPRT cDNA sequence was revealed to be 206A>T, which has not been previously reported. In addition, direct sequencing of genomic DNA showed the patient to possess four variants reported to be associated with hyperuricemia. This is the first case report of partial HPRT deficiency due to a novel HPRT mutation accompanied by variants associated with hyperuricemia. Combination treatment consisting of benzbromarone and febuxostat had a significant effect in reducing the urate level in our patient.
authors.affiliation: Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Kurajoh
authors.forename: Hidenori
authors.initials: H
authors.lastname: Koyama
authors.forename: Miki
authors.initials: M
authors.lastname: Hatayama
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Okazaki
authors.forename: Takuhito
authors.initials: T
authors.lastname: Shoji
authors.forename: Yuji
authors.initials: Y
authors.lastname: Moriwaki
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Tomitaka
authors.initials: T
authors.lastname: Nakayama
authors.forename: Mitsuyoshi
authors.initials: M
authors.lastname: Namba
mesh_terms: D000293:Adolescent; D006073:Gout / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D033461:Hyperuricemia / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase