CBSE Bio Chem
Liberty University
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CBSE Bio-Chem Questions And Answers With Verified Complete Solution 2023
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CBSE Bio-Chem Questions And Answers With Verified Complete Solution 2023 
Lesch-Nyhan Syndrome: what causes it and what are manifestations? HGPRT deficiency in purine salvage pathway (this enzyme normally converts hypoxanthine to IMP and guanine to GMP). This deficiency leads to excessive Uric acid production and de novo purine synthesis. It is X linked recessive. Symptoms: hyperuricemia, gout, aggression / self mutilation, mental retardation, dystonia. 
 
Treatment for Lesch-Nyhan? Allopurinol ...
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