GTR Home > Conditions/Phenotypes > Lesch-Nyhan syndrome


Excerpted from the GeneReview: Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is characterized by motor dysfunction that resembles cerebral palsy, cognitive and behavioral disturbances, and uric acid overproduction (hyperuricemia). The most common presenting features, hypotonia and developmental delay, are evident by age three to six months. Affected children are delayed in sitting and most never walk. Within the first few years, extrapyramidal involvement (e.g., dystonia, choreoathetosis, opisthotonos) and pyramidal involvement (e.g., spasticity, hyperreflexia, extensor plantar reflexes) become evident. Cognitive impairment and behavioral disturbances emerge between ages two and three years. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Overproduction of uric acid may lead to deposition of uric acid crystals or calculi in the kidneys, ureters, or bladder. Gouty arthritis may occur later in the disease. Related disorders with less severe manifestations include hyperuricemia with neurologic dysfunction but no self-injurious behavior and hyperuricemia alone, sometimes with acute renal failure.

Genes See tests for all associated and related genes

  • Also known as: HGPRT, HPRT, HPRT1
    Summary: hypoxanthine phosphoribosyltransferase 1

Clinical features


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Practice guidelines

  • ACMG, 2008
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
  • EuroGenetest, 2011
    Clinical utility gene card for: Lesch-Nyhan syndrome

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