Last reviewed: November 2017
Last updated: October  2016

Summary

Definition

History and exam

Key diagnostic factors

  • age <12 months
  • positive family history
  • orange 'sand' crystals in nappy
  • kidney stones
  • pyramidal signs
  • testicular atrophy
  • male sex
  • developmental delay
  • involuntary movements
  • generalised hypotonia
  • self-injurious behaviour, usually at <5 years of age
  • self-injurious behaviour focusing on the mouth and fingers
  • cognitive disturbances
  • growth retardation
  • action dystonia

Risk factors

  • positive family history

Diagnostic investigations

1st investigations to order

  • serum uric acid level
  • 24-hour urinary uric acid excretion
  • hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene analysis
  • HPRT enzyme activity
Full details

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

Neurologist

Department of Neurology

Radboud University Nijmegen Medical Center

Nijmegen

The Netherlands

Disclosures

JEV has received research grants from The Netherlands Organisation for Scientific Research (NWO) and the Dutch Brain Foundation to conduct scientific research relevant to this topic.

Professor

Departments of Neurology and Human Genetics

Emory University

Atlanta

GA

Disclosures

HAJ has served on the Scientific Advisory Boards for the Lesch-Nyhan Syndrome Children's Research Foundation in the US and for Lesch-Nyhan Action in France. He has received grant support from the NIH, the Lesch-Nyhan Syndrome Children's Research Foundation, and Psyadon Pharmaceuticals for research on Lesch-Nyhan disease.

Peer reviewers VIEW ALL

Professor

Department of Neurology

The University of Maryland School of Medicine

Baltimore

MD

Disclosures

SGR is co-author of a study referenced in this monograph.

Associate Professor (Doc)

Head of the DNA Laboratory

Department of Child Neurology

Second School of Medicine

Charles University

Prague

and University Hospital Motol

Prague

Czech Republic

Disclosures

PS declares that he has no competing interests.

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