Enzyme replacement therapy is most commonly used for
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
Gaucher's disease
Fabry's disease
Niemenn pick's disease
Pompe disease
Genetic and genetic disorders