Enzyme replacement therapy is most commonly used for: (A) Gaucher's disease, (B) Fabry's disease, (C) Niemenn pick's disease, (D) Pompe disease
Answer is A. Gaucher disease is a multisystemuc lipidosis characterized by hematological abnormalities,organomegaly and,skeletal involvement.It has 3 clinical subtypes . It occurs due to the deficient activity of acid beta glucosidase . Thus glucosylceramide accumulate in reticule end I the loam cells. Treatment is mainly enzyme replacement therapy with recombinant acid beta glucosidase.Most extra skeletal symptoms are reversed by 60 IU/kg enzyme iv infusion every other week. Monthly maintenance improves skeletal manifestations. Reference: Nelsons TB of pediatrics 19th edit,pg 487