KROK 1 2020 – Question 51 · KROK (Medicine) · Biological Chemistry

A woman complains that her child is unwell: the child developed loss of appetite, insomnia, and irritability. Biochemical testing shows that there is no glucocerebrosidase enzyme in the child’s blood. It is characteristic of the following pathology:

  1. A. Gaucher disease
  2. B. Von Gierke disease (glycogen storage disease type I)
  3. C. Pompe disease (glycogen storage disease type II)
  4. D. Tay-Sachs disease
  5. E. Niemann-Pick disease
Hint

Work out which lipid the named enzyme normally breaks down in lysosomes, then match the resulting storage pattern to the listed disorders.

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