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Lesch-Nyhan disease

Last reviewed: 21 Oct 2024
Last updated: 07 Jan 2022

Summary

Definition

History and exam

Key diagnostic factors

  • age <12 months
  • orange "sand" crystals in diaper
  • kidney stones
  • pyramidal signs
  • testicular atrophy
  • male sex
  • developmental delay
  • involuntary movements
  • generalized hypotonia
  • self-injurious behavior, usually at <5 years of age
  • self-injurious behavior focusing on the mouth and fingers
  • cognitive disturbances
  • delayed growth
  • action dystonia
  • positive family history
Full details

Risk factors

  • positive family history
Full details

Diagnostic tests

1st tests to order

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

Tests to consider

  • brain MRI
Full details

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Jasper E. Visser, MD, PhD

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), the Association LND Famiglie Italiane Onlus, and the Dutch Brain Foundation to conduct scientific research relevant to this topic.

H. A. Jinnah, MD, PhD

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

Stephen G. Reich, MD

Professor

Department of Neurology

The University of Maryland School of Medicine

Baltimore

MD

Disclosures

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

Pavel Seeman, MD, PhD

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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