Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies

• Published in: Frontiers in pharmacology Vol. 15; p. 1335058
• Main Authors: Mohamed, Feda E, Al-Jasmi, Fatma
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 13.02.2024
• Subjects: Ambroxol; Gaucher disease; glucocerebrosidase enzyme; inborn error of metabolism; pharmacological chaperones; Pharmacology; sphingolipidoses; Gaucher disease; drug repurposing; enzyme enhancement therapy; glucocerebrosidase enzyme; pharmacological chaperones; Ambroxol; inborn error of metabolism; sphingolipidoses

Gaucher disease (GD) is mainly caused by glucocerebrosidase (GCase) enzyme deficiency due to genetic variations in the gene leading to the toxic accumulation of sphingolipids in various organs, which causes symptoms such as anemia, thrombocytopenia, hepatosplenomegaly, and neurological manifestation...