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 Niemann-Pick disease. What genetic defect is the cause of this disease?
Answer options
- Amylo-1,6-glucosidase deficiency
- Acid lipase deficiency
- Glucose 6-phosphatase deficiency
- Xanthine oxidase deficiency
- Sphingomyelinase deficiency
Correct answer
Sphingomyelinase deficiency
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