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)

Descriptor ID	D007926
MeSH Number(s)	C10.228.140.163.100.425 C10.574.500.536 C10.597.606.643.455.625 C16.320.322.500.625 C16.320.400.500 C16.320.400.525.625 C16.320.565.189.425 C16.320.565.798.594 C18.452.132.100.425 C18.452.648.189.425 C18.452.648.798.594
Concept/Terms	Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome Lesch Nyhan Syndrome Lesch-Nyhan Disease Lesch Nyhan Disease HGPRT Deficiency Disease, Complete Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases Choreoathetosis Self-Mutilation Hyperuricemia Syndrome Choreoathetosis Self Mutilation Hyperuricemia Syndrome Complete HGPRT Deficiency Disease Deficiency Disease, Complete HGPRT Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease Hypoxanthine Phosphoribosyl Transferase Deficiency Disease

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