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Biochemistry General 66f24fe7

All of the following are true about Lesch-Nyhan syndrome, EXCEPT:

A
Affects almost solely males
B
Excessive synthesis of purines is a feature
C
Characterized by gouty ahritis
D
Febuxostat is routinely used for treatment
High-Yield Explanation
Lesch-Nyhan syndrome is a genetic disease, affecting almost solely males, of excessive synthesis of purines because of defective recycling and, therefore, uric acid production from their breakdown. Lesch-Nyhan syndrome is characterized by gouty ahritis but, in addition, affects the brain, resulting in mental retardation, loss of control of arm/leg/face movements, aggressive behavior, and self-mutilation by biting and scratching. Successful treatment of this disorder is still being sought. Febuxostat has been approved for use in the treatment of chronic hyperuricemia. This drug appears to be more effective than allopurinol in preventing acute attacks of gout and reducing the size of the crystal deposits. Ref: Janson L.W., Tischler M.E. (2012). Chapter 4. Nucleosides, Nucleotides, DNA, and RNA. In L.W. Janson, M.E. Tischler (Eds), The Big Picture: Medical Biochemistry.

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