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) |
