Lesch-Nyhan syndrome is a disorder that is passed down through families (inherited). It affects how the body builds and breaks down purines. Purines are a normal part of human tissue that help make up the body's genetic blueprint. They are also found in many different foods.
Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait. It occurs mostly in boys. People with this syndrome are missing or severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase (HPRT). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body.
Too much uric acid can cause gout-like swelling in some of the joints. In some cases, kidney and bladder stones develop.
People with Lesch-Nyhan have delayed motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior, including chewing off fingertips and lips. It is unknown how the disease causes these problems.
Exams and Tests
There may be a family history of this condition.
The health care provider will perform a physical exam. The exam may show:
Blood and urine tests may show high uric acid levels. A skin biopsy may show decreased levels of the HPRT1 enzyme.
No specific treatment exists for Lesch-Nyhan syndrome. Medicine for treating gout can lower uric acid levels. However, treatment does not improve the nervous system outcome (for example, having increased reflexes and spasms).
Some symptoms may be relieved with these medicines:
The outcome is likely to be poor. People with this syndrome usually need help walking and sitting. Most need a wheelchair.
Severe, progressive disability is likely.
When to Contact a Medical Professional
Call your provider if signs of this illness appear in your child or if there is a history of Lesch-Nyhan syndrome in your family.
Genetic counseling for prospective parents with a family history of Lesch-Nyhan syndrome is recommended. Testing can be done to see if a woman is a carrier of this syndrome.
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Petty RE, Lindsley CB. Musculoskeletal manifestations of systemic disease. In: Petty RE, Laxer RM, Lindsley CB, Wedderburn LR, eds. Textbook of Pediatric Rheumatology. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 45.