Id http://purl.bioontology.org/ontology/CSP/1849-8105
http://purl.bioontology.org/ontology/CSP/1849-8105
Preferred Name

Lesch Nyhan syndrome

Definitions
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.
Synonyms
hypoxanthine guanine phosphoribosyltransferase deficiency
IMP:pyrophosphate phosphoribosyltransferase deficiency
Type http://www.w3.org/2002/07/owl#Class
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