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Biochemistry Lipids 3e93e3eb

Enzyme replacement is mostly done for:

A
Niemann pick's
B
Gangliosidosis
C
Gaucher's disease
D
Phenylketonuria
High-Yield Explanation
Ans. (c) Gaucher's diseaseRef: Harper's Biochemistry, 30th ed. pg. 251Management of Gaucher's Disease* Regular, intravenous enzyme therapy is currently the treatment of choice in affected patients and is highly efficacious and safe in diminishing the hepatosis and improving bone marrow involvement and hematologic findings.* Symptomatic management of the blood cytopenias and joint replacement continue to have important roles in management* The bone disease is decreased but not eliminated by enzyme therapy. Adults benefit from adjunctive treatment with bisphosphonates to improve bone mass.

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