Lesch Nyhan Syndrome

Causes:

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 1 (HPRT). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body.

Symptoms:

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.

Treatment:

No specific treatment exists for Lesch-Nyhan syndrome. Gout medication (allopurinol) can lower uric acid levels. However, treatment does not improve the neurological outcome (for example, having increased reflexes and spasms).

Some symptoms may be relieved with these medicines:

Carbidopa/levodopa

Diazepam

Phenobarbital

Haloperidol