Exam questionKROK 1Medicine ยท 2020
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 Neimann-Pick disease. What genetic defect is the cause of this disease?
Answer options
- Xanthine oxidase deficiency
- Glucose 6 phosphatase deficiency
- Sphingomyelinase deficiency
- Amylo 1 6 glucosidase deficiency
- Acid lipase deficiency
Correct answer
Sphingomyelinase deficiency
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