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What is completely deficient in Lesch Nyhan syndrome?

a) Adenosine deaminase
b) Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
c) Tyrosine hydroxylase
d) Ornithine transcarbamylase

1 Answer

2 votes

Final answer:

Lesch-Nyhan syndrome results from a deficiency of the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme, leading to harmful levels of uric acid and causing severe symptoms (option b).

Step-by-step explanation:

Lesch-Nyhan syndrome is characterized by the complete deficiency of the enzyme Hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme is crucial for the purine salvage pathway, which is responsible for recycling purines into useful nucleotides. Without the activity of HGPRT, purines such as guanine, xanthine, and hypoxanthine are not recycled and instead degraded into uric acid. High levels of uric acid can lead to a variety of severe symptoms, including kidney problems, gout, and neurological manifestations like Intellectual Disability and a tendency for self-destruction.

Hence, the answer is option b.

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