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Friday, October 28, 2011

Biochemistry-3

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?
(A) Fabry disease
(B) Gaucher disease
(C) Krabbe disease
(D) Niemann-Pick disease (NPD) type I A
(E) Tay-Sachs disease

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