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

Arch Med Res. 2007 May;38(4):460-2. doi: 10.1016/j.arcmed.2006.10.015.

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).

Publication types

  • Case Reports

MeSH terms

  • Acute Kidney Injury / complications*
  • Exons / genetics
  • Gout / complications*
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Infant
  • Lesch-Nyhan Syndrome / complications
  • Lesch-Nyhan Syndrome / diagnosis*
  • Lesch-Nyhan Syndrome / genetics*
  • Male
  • Mutation
  • Sequence Deletion

Substances

  • Hypoxanthine Phosphoribosyltransferase

Associated data

  • OMIM/300322