Harvard Catalyst Profiles

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, pp127)

Below are MeSH descriptors whose meaning is more general than "Lesch-Nyhan Syndrome".

Below are MeSH descriptors whose meaning is related to "Lesch-Nyhan Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Lesch-Nyhan Syndrome".