Enzyme replacement is mostly done for:: (A) Niemann pick's, (B) Gangliosidosis, (C) Gaucher's disease, (D) Phenylketonuria
Answer is C. 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.