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Examen
CBSE Biochem Exam Questions With All Correct Answers A+ Solution Guide 2025 New Update
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---38mayo 20252024/2025A+
- CBSE Biochem Exam Questions With All Correct Answers A+ Solution Guide 2025 New Update 
 
Lesch-Nyhan Syndrome: what causes it and what are manifestations? - Answers - 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 f...
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Stuviaascorers
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Examen
CBSE Biochem Exam Questions with 100% Correct Answers
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---37agosto 20232023/2024A+
- Lesch-Nyhan Syndrome: what causes it and what are manifestations? Correct Answer 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? Correct Answer Allopurinol / febuxostat second line. Both of these drug...
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