Abstract
Lesch Nayhan syndrome is a rare X linked recessive disorder of purine metabolism due to the severe deficiency of the enzyme hypoxanthine guanin phosphoribosyl transferase The disease is characterized by hyperuricemia self mutilation choreathetosis spasticity and mental retardation In this paper a case of Lesch Nyhan syndrome with mental retardation spasticity self mutilation is presented and relevant literature is reviewed Key words: Lesch Nyhan Syndrome Self Mutilation Purine Metabolism
Keywords
Abstract
Lesch Nyhan sendromu purin metabolizmasının X e bağlı resesif kalıtılan bir bozukluğudur Bozukluğun sebebi hipoksantin guanin fosforibozil transferaz enziminin eksikliğidir Hastalıkta hiperürisemi selfmutilasyon koreoatetosis spastisite ve mental retardasyon ile karakterizedir Bu yazıda mental retardasyonu selfmütilasyonu spastisitesi olan bir Lesch Nyhan sendromu olgusu ve ilgili literatür gözden geçirildi Anahtar kelimeler: Lesch Nyhan Sendromu Selfmutilasyon Purin Metabolizması
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Details
| Primary Language | Turkish |
|---|---|
| Journal Section | When the Turkish word exists |
| Authors | |
| Publication Date | December 1, 1993 |
| Published in Issue | Year 1993 Volume: 28 Issue: 4 |