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