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: Masafumi Kurajoh, Hidenori Koyama, Miki Hatayama, Hirokazu Okazaki, Takuhito Shoji, Yuji Moriwaki, Tetsuya Yamamoto, Tomitaka Nakayama, Mitsuyoshi Namba
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 54 Issue 12 Pg. 1523-6 ( 2015) ISSN: 1349-7235 [Electronic] Japan
• PMID: 26073243 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hypoxanthine Phosphoribosyltransferase

Topics

• Adolescent
• Gout (diagnosis, genetics)
• Humans
• Hyperuricemia (diagnosis, etiology, genetics, metabolism)
• Hypoxanthine Phosphoribosyltransferase (deficiency, genetics, metabolism)
• Male
• Mutation, Missense (genetics)
• Point Mutation
• Sequence Analysis, DNA