Tag: Lysosomal storage disease

Over 400 different genetic mutations have been identified that can lead to a deficiency of glucocerebrosidase, causing the lysosomal storage disorder known as Gaucher disease. This inherited condition prevents the body from properly breaking down a fatty substance called glucocerebroside, leading to its accumulation in cells and causing a wide range of health problems.

According to a 2024 publication, approximately 1 in 40,000 to 170,000 live births are affected by Fabry disease. In adults with this rare genetic disorder, treatment often involves specialized therapies, and understanding what is Elfabrio for and its mechanism is a crucial part of managing the condition.