An adult man suffered from stable angina pectoris for 15 years, during which time there was progressive heart failure and repeated pulmonary thromboembolism. On his death at age 63, autopsy disclosed enormous cardiomyopathy (1100 g), cardiac storage of globotriaosylceramide (11 mg lipid/g wet weight), and restricted cardiocytes. Which of the following lipid storage diseases would result in these clinical findings?

Question

Quizplus · Accepted Answer

Fabry disease is a lipid storage disorder characterized by the accumulation of globotriaosylceramide due to a deficiency in the enzyme alpha-galactosidase A. This accumulation can lead to cardiomyopathy and other systemic symptoms, consistent with the findings in the autopsy.  Fabry disease is an X-linked disorder that results from a deficiency in α-galactosidase A. This leads to the deposition of neutral glycosphingolipids with terminal α-galactosyl moieties in most tissues and fluids. Most affected tissues are heart, kidneys, and eyes. The predominant glycosphingolipid accumulated is globotriaosylceramide [galactosyl-(α1→4)-galactosyl- (β1→4)-glucosyl-(β1→1')-cer amide]. With increasing age the major symptoms of the disease are due to increasing deposition of glycosphingolipid in the cardiovascular system. Indeed, cardiac disease occurs in most hemizygous males.

An Adult Man Suffered from Stable Angina Pectoris for 15