Екзаменаційне питанняKROK 1Медицина · 2019
A mother of a 4-month-okl male infant brought him to pediatrician with complaints of food rejection and weight loss. I le started having trouble latching onto his bottle. He has also become extremely lethargic. Examination reveals diminished muscle tone in all four limbs, and hepatosplenomcgaly. An ophthalmoscopic exam reveals macular cherry red spots. During the next few weeks, hepatospienomegaly progresses, the boy fails to thrive, and he continues to reject food. Chest X-ray shows a reticulonodular pattern and calcified nodules. Biopsy of the liver shows foamy histiocytes. A Niemann-Pick disease is suspected. Which of the following is the most likely deficient enzyme in this patient?
Варіанти відповіді
- Glucose-6-phosphatase
- Glucocerebrosidase
- Sphingomyelinase
- Phenylalanine-hydroxylase
- Galactocerebrosidase
Правильна відповідь
Sphingomyelinase
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