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Lesch Nyhan syndrome
Used for:
hypoxanthine guanine phosphoribosyltransferase deficiency
Used for:
IMP:pyrophosphate phosphoribosyltransferase deficiency
Broader Terms:
enzyme deficiency
Broader Terms:
mental retardation
Broader Terms:
purine /pyrimidine metabolism disorder
Broader Terms:
syndrome
Related Terms:
hyperuricemia
Related Terms:
hypoxanthine phosphoribosyltransferase
Related Terms:
sex linked trait
Scope Note:
rare x-linked disorder of purine metabolism, due to deficiency of 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.
Term Number:
1849-8105
Send your comments to: Melody Lowe