Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature
oleh: Gökhan Kabaçam, Gülşah Kabaçam, Pervin Topçuoğlu, Işınsu Kuzu, Mutlu Arat
| Format: | Article |
|---|---|
| Diterbitkan: | Galenos Publishing House 2010-10-01 |
Deskripsi
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.