The disease Lesch-Nyhan syndrome is caused by a genetic lack of which enzyme activity?
Explanation
Lesch-Nyhan syndrome is a rare X-linked genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The inability to salvage purine bases leads to their overproduction via de novo pathways, resulting in massive accumulation of uric acid and severe neurological symptoms.
Other questions
What is the primary function of leghemoglobin in the root nodules of leguminous plants during nitrogen fixation?
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Which statement accurately describes the initial committed step in de novo purine nucleotide synthesis?
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What is the key difference between the de novo biosynthetic pathways for purines and pyrimidines?
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