Important

It is possible that the main title of the report Lesch Nyhan Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synoyms

• Hereditary Hyperuricemia and Choreoathetosis Syndrome
• HGPRT, Absence of HPRT, Absence of Hyperuricemia, Choreoathetosis, Self-multilation Syndrome
• Hyperuricemia-Oligophrenia
• Hypoxanthine-Guanine Phosphoribosyltranferase Defec. (Complete Absense of)
• Juvenile Gout, Choreoathetosis, and Mental Retardation Syndrome
• Nyhan Syndrome

Disorder Subdivision

None

General Discussion

Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purine, a nitrogen-containing compound found in many foods (e.g., organ meats, poultry, and legumes) is not broken down properly due to the absence of HPRT. Uric acid levels are abnormally high in people with Lesch-Nyhan syndrome and sodium urate crystals may abnormally accumulate in the joints, kidneys, central nervous system, and other tissues of the body. Lesch-Nyhan syndrome is inherited as an X-linked recessive genetic disorder that most often affects males.

The symptoms of Lesch-Nyhan syndrome include impaired kidney function, joint pain, and self-mutilating behaviors such as lip and finger biting and/or head banging. Additional symptoms may include muscle weakness (hypotonia), uncontrolled spastic muscle movements, and neurological impairment.