This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: None, Subject name: Medicine
[{'content': 'All are TRUE about Fabry disease, EXCEPT: \nSelect and explain. \nA. X-linked dominant disorder, B. Premature atherosclerosis is seen, C. Retinitis pigmentosa is well described in Fabry, D. Accumulation of ceramide trihexoside in nerves and blood vessels', 'role': 'user'}, {'content': 'Answer: C \nExplanation: Fabry disease (angiokeratoma corporis diffusum) is an X-linked dominant disorder. Angiokeratomas are reddish-purple maculopapular lesions that are usually found around the umbilicus, scrotum, and perineum. Premature atherosclerosis is a feature that often lead to death by the fifth decade of life. Some patients also manifest a dilated cardiomyopathy. Fabry disease is due to mutations in the Alpha-galactosidase gene that leads to the accumulation of ceramide trihexoside in nerves and blood vessels. Retinitis pigmentosa is not a feature of Fabry, it is a feature of Refsum disease. Refsum disease can manifest with the classic tetrad of (1) peripheral neuropathy, (2) retinitis pigmentosa, (3) cerebellar ataxia, and (4) elevated CSF protein concentration.', 'role': 'assistant'}]