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Name the genetic disorder which is caused by the deficiency of enzyme HGPRT?

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Name the genetic disorder which is caused by the deficiency of enzyme HGPRT?

(a) SCID

(b) Lesch-Nyhan syndrome

(c) Cystic fibrosis

(d) Down syndrome

The question was posed to me in an interview.

My enquiry is from Nucleotide Metabolism topic in portion Bioenergetics and Metabolism of Life Sciences

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Correct answer is (b) Lesch-Nyhan syndrome

Explanation: This genetic disorder is caused by the deficiency of enzyme hypoxanthine-guanine phosphoribosyl-transferase (HGPRT). This results in increase rate of purine biosynthesis by de novo pathway and overproduction of urate.

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