Exam questionKROK 1Medicine ยท 2020
A 2-year-old child present with marked delayed in the psychomotor development, vision and hearing deterioration, marked enlargement of liver and spleen. The child is diagnosed with hereditary Niemann pick disease. What genetic defect is the cause of this disease ?
Answer options
- Glucose 6 phosphatase deficiency
- Xanthine oxidase deficiency
- Sphingomyelinase deficiency
- Amylo 1 - 6 Glucosidase deficiency
- Acid lipase deficiency
Correct answer
Sphingomyelinase deficiency
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