KROK 1 2020 – Question 44 · KROK (Medicine) · Biological Chemistry
A 2-year-old child presents with marked delay in psychomotor development, vision and hearing deterioration, marked 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. Acid lipase deficiency
- B. Xanthine oxidase deficiency
- C. Sphingomyelinase deficiency
- D. Glucose 6-phosphatase deficiency
- E. Amylo-1,6-glucosidase deficiency
Hint
Ask which lipid builds up in the storage cells of this inherited disease and which lysosomal hydrolase normally degrades it.
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