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Pediatric Nephrology

, Volume 34, Issue 3, pp 425–427 | Cite as

Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers

  • Natasha NgEmail author
  • Amrit Kaur
  • Mohan Shenoy
Clinical Quiz
  • 148 Downloads

Discussion

Lesch-Nyhan syndrome is a rare X-linked genetic disorder caused by an inborn error of nucleotide metabolism. The disease is characterised by abnormal metabolic and neurologic manifestations. This includes hyperuricaemia and a distinctive neuro-behavioural phenotype manifested by dystonia and behavioural symptoms, with possible subsequent self-mutilation behaviour. The mutations can be localised to the HPRT1 gene which encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), a key molecule involved in the recycling of purine bases (Fig.  1). Patients with a partial enzyme deficiency (Lesch-Nyhan variants) display an incomplete phenotype, varying dependent on residual HPRT activity [ 1]. Patients with the most severe form of disease have virtually complete deficiency (less than 1.5% residual HPRT activity) and are typically affected by the classical form of Lesch-Nyhan syndrome. Patients with partial enzyme deficiency (at least 8% residual HPRTactivity), also...

Keywords

Lesch-Nyhan syndrome Allopurinol Purine metabolism 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© IPNA 2018

Authors and Affiliations

  1. 1.Royal Manchester Children’s HospitalManchesterUK

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