Which of the following is a hallmark metabolic abnormality in Lesch-Nyhan syndrome?

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Multiple Choice

Which of the following is a hallmark metabolic abnormality in Lesch-Nyhan syndrome?

Lesch-Nyhan syndrome stems from a deficiency of HGPRT, a key enzyme in the purine salvage pathway. When salvage is impaired, purines are broken down more, leading to excess uric acid production. This results in hyperuricemia (high uric acid in the blood and urine), which underlies features like gout and uric acid kidney stones. The other options don’t fit because they describe abnormal glucose levels or a low uric acid level, neither of which characterizes this condition.

Lesch-Nyhan syndrome stems from a deficiency of HGPRT, a key enzyme in the purine salvage pathway. When salvage is impaired, purines are broken down more, leading to excess uric acid production. This results in hyperuricemia (high uric acid in the blood and urine), which underlies features like gout and uric acid kidney stones. The other options don’t fit because they describe abnormal glucose levels or a low uric acid level, neither of which characterizes this condition.

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