Lipid metabolism — MCQs

A 54-year-old man presents to his primary care physician with a 2-month-history of diarrhea. He says that he feels the urge to defecate 3-4 times per day and that his stools have changed in character since the diarrhea began. Specifically, they now float, stick to the side of the toilet bowl, and smell extremely foul. His past medical history is significant for several episodes of acute pancreatitis secondary to excessive alcohol consumption. His symptoms are found to be due to a deficiency in an enzyme. Which of the following enzymes is most likely deficient in this patient?

A 2-year-old boy is brought to the emergency department by his parents because of fever and recurrent episodes of jerky movements of his extremities for the past 6 hours. Pregnancy and delivery were uncomplicated, and development was normal until the age of 1 year. The parents report that he has had gradual loss of speech, vision, and motor skills over the past year. During this time, he has been admitted to the hospital three times because of myoclonic seizures. Physical examination shows hypertonicity of the upper and lower extremities. Fundoscopic examination shows pallor of the optic disc bilaterally. An MRI of the brain shows brain atrophy and hyperintensity of the periventricular and subcortical areas. Two days after admission, the patient dies. Histopathologic examination of the brain shows aggregation of globoid cells and loss of glial cells. The patient’s condition was most likely caused by a deficiency of which of the following enzymes?