Fabry Disease
Fabry Disease is an inherited condition caused by the absence or malfunction of an enzyme called alpha-galactosidase A. This results in the accumulation of a fatty substance called globotriaosylceramide in the body’s cells and tissues, which can lead to a range of serious physical, psychological and neurological problems. It is a rare genetic disorder, affecting approximately one in 40,000 to one in 120,000 people on a global level. Early diagnosis and treatment is important in order to reduce the severity of the symptoms and potential long-term disability. Treatment includes medications, enzyme replacements and organ transplants, depending on the individual’s condition. Fabry Disease affects the whole body and can dramatically reduce the quality of life for those affected and their families.
← Journal of Enzymes