Lesch Nyhan syndrome
From Health Encyclopedia
Contents |
Used for
hypoxanthine guanine phosphoribosyltransferase deficiency, IMP:pyrophosphate phosphoribosyltransferase deficiency
Broader Terms
enzyme deficiency, mental retardation, purine /pyrimidine metabolism disorder, syndrome
Related Terms
hyperuricemia, hypoxanthine phosphoribosyltransferase, 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.
Facts (generated by robot; please edit if you find it inaccurate)
- Lesch Nyhan Syndrome Important It is possible that the main title of the report Lesch Nyhan Syndrome is not the name you expected.
- Lesch-Nyhan syndrome Neurological Encyclopedia Lesch-Nyhan syndromeDefinitionLesch-Nyhan syndrome is a rare genetic disorder that affects males.
- Since only the smallest fraction of information dealing with Lesch Nyhan syndrome is indexed in search engines, such as www.
- As Lesch Nyhan syndrome is a purine metabolic disorder, support and information can be obtained from PUMPA (see, Purine and Pyrimidine Metabolic diseases) Support is also available from a group of families under the umbrella of Climb (see entry, Metabolic diseases) e86 .
- The most unusual feature of Lesch-Nyhan syndrome is compulsive self-injury, including chewing of the tongue, lips, and fingers.
Would you like to discuss or post question about Lesch Nyhan syndrome ? Click here !