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Medicine Miscellaneous 7a66060d

Lesch-Nyhan syndrome is due to the deficiency of which enzyme?

A
Glucose 6- phosphatase
B
Glutathione reductase
C
PRPP glutamyl-amidotransferase
D
Hypoxanthine-guanine phosphoribosyl transferase
High-Yield Explanation
(D) Hypoxanthine-guanine phosphoribosyl transferase # LESCH-NYHAN SYNDROMEis a sex-linked metabolic disorder since the structural gene for HGPRT is located on the X-chromosome.> It affects only the males and is characterized by excessive uric acid production (often gouty arthritis), and neurological abnormalities such as mental retardation, aggressive behaviour, learning disability etc.> The patients of this disorder 'nave an irresistible urge to bite their fingers and lips, often causing self-mutilation.

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