KROK 1 2017 – Question 112 · KROK (Medicine) · Biological Chemistry
A 2-year-old child presents with acute psychomotor retardation, vision and hearing impairment, sharp enlargement of the liver and spleen. The child is diagnosed with hereditary Niemann-Pick disease. What genetic defect is the cause of this disease?
- A. Xanthine oxidase deficiency
- B. Acid lipase deficiency
- C. Amylo-1,6-glucosidase deficiency
- D. Glucose 6-phosphatase deficiency
- E. Sphingomyelinase deficiency
Hint
Think about which lysosomal hydrolase must be missing when a membrane lipid builds up in macrophages and neurons, producing a large liver and spleen with neurological decline.
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