Lesch-Nyhan Syndrome

**Definition:** 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)

**Tree numbers:** - C10.228.140.163.100.425 - C10.597.606.360.455.625 - C16.320.322.500.625 - 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

**Synonyms:** - Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency - X-Linked Hyperuricemia - X-Linked Primary Hyperuricemia - HGPRT Deficiency - Total HPRT Deficiency - Complete HPRT Deficiency - Choreoathetosis Self-Mutilation Hyperuricemia Syndrome - Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease - Complete HGPRT Deficiency Disease - Deficiency Disease, Complete HGPRT - Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase - HGPRT Deficiency Disease, Complete - Lesch-Nyhan Disease - Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency - Choreoathetosis Self-Mutilation Syndrome - Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency - Deficiency of Guanine Phosphoribosyltransferase - Hypoxanthine Guanine Phosphoribosyltransferase Deficiency - Hypoxanthine Phosphoribosyltransferase Deficiency - Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome - Juvenile Hyperuricemia Syndrome - Primary Hyperuricemia Syndrome - Deficiency of Hypoxanthine Phosphoribosyltransferase