Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat.

ABSTRACT: Gaucher disease (GD; OMIM 230800) is a lysosomal storage disorder caused by a deficiency in acid beta-glucosidase as a result of mutation in the GBA gene. Type 1 GD (GD1) is the most common form and its clinical manifestations include severe hematological, visceral and bone disease. The goal of disease-modifying treatments for GD1 is to reduce substrate storage and hence toxicity from the disease. The two common therapeutic routes for managing GD1 are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). These therapies have shown to improve hematological and visceral aspects of the disease. However, quantitative investigations into how these therapies may help prevent or improve the progression of bone disease is limited. This case involves a patient diagnosed wit

SUBMITTER: Sidhu K 

PROVIDER: S-EPMC7264072 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature