Питання 25 з 90

A mother of a 4-month-old male infant brought him to pediatrician with complaints of food rejection and weight loss. He started having trouble latching onto his bottle. He has also become extremely lethargic. Examination reveals diminished muscle tone in all four limbs, and hepatosplenomegaly. An ophthalmoscopic exam reveals macular cherry red spots. During the next few weeks, hepatosplenomegaly progresses, the boy fails to thrive, and he continues to reject food. Chest X-ray shows a reticulonodular pattern and rcalcified 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?

1. A Phenylalanine-hydroxylase
2. B Galactocerebrosidase
3. C Sphingomyelinase
4. D Glucose-6-phosphatase
5. E Glucocerebrosidase

Правильна відповідь: C. Sphingomyelinase