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Identify the correct statements about Lesch-Nyhan syndrome. There is more than one correct statement.
a) Some symptoms of Lesch-Nyhan syndrome include involuntary movements and self-mutilation.
b) Gout causes Lesch-Nyhan syndrome.
c) Uric acid is produced in excess, and acts as a strong antioxidant.
d) This syndrome allows for purine nucleotide production only via the de novo pathway.
e) This syndrome is caused by a deficiency in hypoxanthine-guaninephosphoribosyltransferase (HGPRT).

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Answer:

a) Some symptoms of Lesch-Nyhan syndrome include involuntary movements and self-mutilation.

e) This syndrome is caused by a deficiency in hypoxanthine-guaninephosphoribosyltransferase (HGPRT).

Explanation:

  • Lesch-Nyhan syndrome is a genetically transferred disorder caused by lack of hypoxanthine-guaninephosphoribosyltransferase (HGPRT). The lack of HGHPRT is caused when mutation happens in the HPRT1 gene in the X chromosome.
  • It is a very rare disorder usually inherited from the parents or the family tree . A person suffering from Lesch-Nyhan syndrome is commonly characterized by the overproduction of uric acid in their bodies.
  • Due to overproduction of uric acid, symptoms of Lesch-Nyhan syndrome include involuntary movements and self-mutilation.  These abnormal movements include muscle movements such dystonia chorea, and ballismus.

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