Redox rxns - Study guides, Class notes & Summaries

CBSE Biochem Lesch-Nyhan Syndrome: what causes it and what are manifestations? - correct answersHGPRT 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? - correct answersAllopurinol / febuxostat second ...