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Exam questionKROK 1Medicine · 2020

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:

Answer options

  1. Niemann-Pick discase
  2. Pompe discase (glycogen storage disease type II)
  3. Gaucher disease
  4. Tay-Sachs disease
  5. Von Gierke disease (glycogen storage disease type l)
Correct answer

Gaucher disease

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