KROK 1 2014 – Question 179 · KROK (Medicine) · Biological Chemistry

A child has a history of hepatomegaly, hypoglycemia, seizures, especially on an empty stomach and in stressful situations. The child is diagnosed with Gierke disease. This disease is caused by the genetic defect of the following enzyme:

  1. A. Glucokinase
  2. B. Glucose-6-phosphatase
  3. C. Glycogen phosphorylase
  4. D. Amylo-1,6-glycosidase
  5. E. Phosphoglucomutase
Hint

Recall the biochemical block in this named glycogen storage disease and why it causes fasting hypoglycaemia together with an enlarged liver.

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