Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature

Abstract

Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. Here, we present an adult patient with hematological disorders due to type 1 GD, who markedly improved with ERT. (Turk J Hematol 2010; 27: 190-5) Key words: Gaucher disease, glucosylceramidase, treatment

Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-N-Acetylglucosamine-6-Sulfatase in Neonatal Mice

“…The ERT approach administers the deficient enzyme, often from a recombinant source, to correct the metabolic deficiency. This therapeutic approach has had considerable success in several forms of MPS, , as well as Gaucher, , Pompe, Fabry diseases, and Batten disease . The success of ERT relies on the cellular uptake of the exogenous protein and transport to the lysosomal compartment, which occurs primarily via the 300 kDa, cation-independent mannose 6-phosphate (M6P) receptor.…”