Definition of Lesch-Nyhan syndrome
Lesch-Nyhan syndrome is an inheritable disorder that affects how the body builds and breaks down purines. Purines are a normal part of human tissue and help make up the body’s genetic blueprint. They are also found in many different foods.
Causes, incidence, and risk factors
Lesch-Nyhan syndrome is inherited as an X-linked trait. It mostly occurs in boys. Persons with this syndrome are missing or are severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase 1 (HGP). The body needs this enzyme to recycle purines. Without it, abnormally high levels of uric acid build up in the body.
The excess uric acid levels cause children to develop gout-like swelling in some of their joints. In some cases, kidney and bladder stones develop because of the high uric acid levels.
Signs and tests
There may be a family history of this condition.
No specific treatment exists for Lesch-Nyhan syndrome. The gout medication, allopurinol, successfully decreases uric acid levels, but does not improve the neurological outcome.
The outcome is likely to be poor. Persons with this syndrome usually require assistance walking and sitting and generally need a wheelchair to get around.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 4/26/2010