Lysosomes are small structure called organelles within the cell’s cytoplasm, containing enzymes that are necessary for the cell’s digestive process. Lysosomes use these digestive enzymes to recycle usable worn-out cell components.
In Fabry disease there is little or no activity of enzyme, α-galactosidase A, which breaks down a certain fatty substance called globotriaosylceramide. This deficiency of α-galactosidase A results in the altered metabolism and an accumulation of globotriaosylceramide in various systems throughout the body leading to pathology in multiple organ.
Typical associated symptoms and signs may include neuropathic pain, severe acute pain attacks, acroparesthesia or hearing loss, diarrhea, heart palpitations and pain, various eye disorders or difficulties such as closing of the cornea and cardiomyopathies.
Serious clinical disease, fortunately, only affects less than 2% of heterozygous females.
What is Fabry disease?
