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An infant has an enlarged liver and spleen, cataracts and anaemia and exhibits general retardation of development....

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Medical Sciences

An infant has an enlarged liver and spleen, cataracts andanaemia and exhibits general
retardation of development. Mevalonate is found in the urine.Investigation reveals a
deficiency of mevalonate kinase, which catalyses the formation of5-
phosphomevalonate from mevalonate.
11.1. Urinary excretion of mevalonate acid is consistent with adeficiency of
mevalonate kinase. Explain the reason for the deficiency using yourown

diagram.
11.2. How would a deficiency of mevalonate kinase affectcholesterol synthesis in this
infant?
11.3. What level of HMG-CoA reductase activity, relative to normal,would you expect
to find in cells isolated from the infant? Briefly explain youranswer.		(5)
(5)
(5)

Answer & Explanation Solved by verified expert
4.5 Ratings (1013 Votes)
111 mevalonate kinase deficiency is inherited in an autosomalrecessive mannermutation in mevalonate kinase gene results in mevalonate kinasedeficiencymevalonate deficiency may clinically    See Answer
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