HPRT Deficiency in a Two-Month-Old Child Presenting Acute Renal Failure and Gout with a New Deletion of Two Bases in Exon 3 of the HPRT Gene

Abstract

We describe an HPRT deficiency in a 2-month-old child who presented acute renal failure and gout with normal mental and motor development for age. The patient was diagnosed with Lesch-Nyhan disease and showed a new mutation, a deletion of two bases in exon 3 of the HPRT gene (c.269-270delAT).