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)

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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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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)