Essential Biochemistry - Nucleic Acid Metabolism (Section 3 - No. 44)
Which of the following is a feature of Lesch-Nyhan syndrome?
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
X-linked recessive inheritance.
Excessive uric acid production.
Impaired salvage of purines.
Explanation
Lesch-Nyhan syndrome is caused by a deficiency of HGPRT, has an X-linked recessive inheritance, and results in overproduction of uric acid because the purines can not be salvaged.
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