Question

Describe diagnosis and symptoms of:

(i) Lesch-Nyhan Syndrome

(ii) Gout

20 Dec 2024
Answer :
Word Count : 587

Lesch-Nyhan Syndrome (LNS) and Gout are two distinct disorders associated with the metabolism of purine nucleotides, yet they exhibit different symptoms and diagnostic characteristics.

Lesch-Nyhan Syndrome (LNS) is a rare genetic disorder caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme is involved in the purine salvage pathway, which recycles purines to prevent the need for new synthesis. The absence of HGPRT leads to the accumulation of uric acid, which is produced from purine degradation, and causes neurological and behavioral abnormalities. It is an X-linked recessive disorder, meaning it primarily affects males, with females _________ __________ _____ _____ ______ _____ _____ ____ _____ _________.
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