Disease Information for Lesch-Nyhan syndrome

An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures; Self-destructive behaviors such as biting of fingers and lips are seen frequently; Intellectual impairment may also occur but is typically not severe; Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis; (Menkes, Textbook of Child Neurology, 5th ed, )---------------------------------------------------------

Lesch Nyhan Syndrome; HGPRT, Absence of; HPRT, Absence of

Hereditary Hyperuricemia and Choreoathetosis Syndrome;

Hyperuricemia, Choreoathetosis, Self-multilation Syndrome;

Hyperuricemia-Oligophrenia; Hypoxanthine-Guanine Phosphoribosyltranferase Defect (Complete Absense of);

Juvenile Gout, Choreoathetosis, and Mental Retardation Syndrome; Nyhan Syndrome; Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)

(Edit)