Partial HPRT Deficiency with a Novel Mutation of the <i>HPRT</i> 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.

GLUT9 influences uric acid concentration in patients with Lesch‐Nyhan disease

“…Thus, no patients in our series presented allopurinol resistance or needed allopurinol doses >300 mg/day to achieve the goal serum uric acid level. Two patients with HPRT deficiency have been reported in whom genotyping of the ABCG2 , URAT1 and GLUT9 SNPs had been performed . In these patients, a heterozygous CA genotype for ABCG2 rs2231142 was associated with a poor response to xanthine oxidase inhibition.…”

Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout

“…ACCEPTED MANUSCRIPT variant c.206A>T in Japanese adolescent boy with hyperuricemia, gout and decreased erythrocyte HPRT activity was reported [17]. In addition, two introns (homozygous rs505802…”

Genetic Background of a Juvenile Onset Gout Patient

“…Each SNP has a tiny effect, while multiple SNPs may have a greater impact. [ 4 ] Furthermore, the successful diagnosis and treatment is greatly significant to carry out the genetic analysis for such patients. Taken together, different therapeutic strategies (such as early interventions, intensive therapy like combination treatment of febuxostat and benzbromarone) could be proposed, and prognosis might be improved.…”