For which of the following disorders enzyme replacement therapy is available?
Correct Answer: Gaucher disease
Description: Gaucher disease is an autosomal recessive disorder causing a deficiency of beta-glucocerebrosidase, which causes an accumulation of sphingolipid within phagocytic cells throughout the body. Clinical features include, Anemia and thrombocytopenia Hypersplenism Pathologic fractures Bone marrow aspirates reveal typical Gaucher cells, which have an eccentric nucleus and periodic acid-Schiff (PAS)-positive inclusions, along with wrinkled cytoplasm and inclusion bodies of a fibrillar type. A recombinant form of the enzyme glucocerebrosidase (imiglucerase) for intravenous administration on a regular basis now permits a reduction in total body stores of glycolipid and improvement in ohopedic and hematologic manifestations. Ref: Pyeritz R.E. (2013). Chapter 40. Clinical Genetic Disorders. In M.A. Papadakis, S.J. McPhee, M.W. Rabow (Eds), CURRENT Medical Diagnosis & Treatment 2013.
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