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Lesch-Nyhan Syndrome: what causes it and what are manifestations? correct 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 for Lesch-Nyhan? correct answers Allopurinol / febuxostat second line. Both of these dr...

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35 pages

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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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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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37 pages

Written in 2023/2024

Grade A+

ExamsGuru

CBSE BIOCHEM Exam With Complete Questions And Answers Graded A 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? Cor...

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31 pages

Written in 2022/2023

Grade A

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