Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency

Partial HPRT Deficiency with a Novel Mutation of the <i>HPRT</i> Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia

“…Therefore, the combination of variants associated with hyperuricemia, in addition to HPRT deficiency, observed in the present case may have influenced the urate level in our patient. In general, the urate level is well controlled by XOIs, such as allopurinol, in patients with HPRT deficiency, who are characterized by urate overproduction (2). Surprisingly, the URAT 1 inhibitor used in the current case had a notable effect in reducing the patient's serum urate level, whereas treatment with an XOI (febuxostat) had little effect.…”

“…This enzyme salvages hypoxanthine and guanine by metabolizing most of their purine bases to uric acid, which subsequently results in hyperuricemia in individuals with HPRT deficiency. Accordingly, xanthine oxidase inhibitors (XOIs), such as allopurinol, are generally used to treat hyperuricemia in patients with HPRT deficiency due to their effects in blocking the conversion of hypoxanthine to uric acid via xanthine by xanthine oxidoreductase, thus reducing uric acid production (2).…”

Bilateral Vesicoureteric Reflux may be a Rare Association in Lesch-Nyhan Syndrome: A Case Report

“…Allopurinol is efficacious and generally safe as treatment for uric acid overproduction in patients with HPRT deficiency. 17 This case is also treated with allopurinol along with treatment of UTI (IV antibiotics). This case is having grade 2 VUR, regarding management of VUR, spontaneous resolution rate is 70-90% in VUR grade 1-3 and antibiotic prophylaxis is the cornerstone of management; UTI must be recognized promptly and treated aggressively.…”

“…Over the years many inventive and effective approaches involving an assortment of hand restraints, dental mouth guards, and dental extractions have been utilized 4,5,11 and with appropriate allopurinol treatment, renal function is generally preserved. 17 LNS is usually associated with renal calculi and renal failure because of hyperuricemia and it has been established by several studies but vesicoureteric reflux as an association with LNS has not been reported till date so far.…”

HPRT Deficiency in Spain: What Have We Learned in the Past 30 Years (1984–2013)?

“…This may be prevented by titrating allopurinol doses to maintain high-normal serum uric acid levels (close to the serum saturating level of 7.0 mg/dL). [16] In acute cases, three LND patients were treated with rasburicase during a short period of time with renal function recovery and improvement of severe acute lithiasis. [17] We have great expectation with other therapies now under investigation that could obviate the xanthine lithiasis as PEG uricase or purine nucleoside phosphorylase (PNP) inhibitors.…”