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)
Also Known As:
Choreoathetosis Self Mutilation Hyperuricemia Syndrome; Complete HGPRT Deficiency Disease; Deficiency Disease, Complete HGPRT; Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase; HGPRT Deficiency Disease, Complete; Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency; Lesch-Nyhan Disease; Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase; Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase; Hypoxanthine Phosphoribosyl Transferase Deficiency Disease; Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases; Lesch Nyhan Disease; Lesch Nyhan Syndrome; Choreoathetosis Self-Mutilation Hyperuricemia Syndrome; Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease