What protein is affected by Fabry disease?
Fabry disease is a lysosomal storage disease caused by deficiency in the enzyme alpha-galactosidase (alpha-GAL).
Can you live a normal life with Fabry disease?
Many people with Fabry disease live full and productive lives. But men in particular don’t live as long as normal. The reason is usually heart disease or kidney disease. If your doctor finds and treats these problems early, it may help lengthen your lifespan.
Is Fabry disease considered a rare disease?
Fabry disease is a rare pan-ethnic disorder, meaning that it occurs in all racial and ethnic populations affecting males and females. It is estimated that type 1 classic Fabry disease affects approximately one in 40,000 males.
What enzyme is responsible for Fabry disease?
Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes , which are structures that serve as recycling centers within cells.
Can Fabry disease be cured?
There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacologic chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals.
What does Fabry disease feel like?
Many Fabry disease patients experience gastrointestinal symptoms such as diarrhea, abdominal cramping, frequent bowel movements, flatulence, early satiety or having a feeling of fullness earlier than normal, reduced appetite, nausea, and/or vomiting.
What does Fabry disease do to your body?
People who have Fabry disease don’t have the enzymes that break down lipids or fats. These fats collect in blood vessels and tissue, raising the risk of heart attack, stroke and kidney failure. This genetic condition is passed from parent to child.
How does Fabry disease affect the skin?
It is also known as Anderson–Fabry disease and angiokeratoma corporis diffusum. Fabry disease causes clusters of angiokeratomas (small, dark red spots on the skin) and many systemic symptoms due to the deposition of globotriaosylceramide (Gb3) in multiple organs.
Can you eat if you have Fabry disease?
There isn’t a specific Fabry disease diet. You’ll need to work with your doctor and a registered dietitian to find a balanced plan. They’ll pick one based on your symptoms and overall health. The goal is to help you eat comfortably while getting all the nutrition you need.
What are the treatment options for Fabry disease?
Diagnosis of Fabry disease in males includes the detection of decreased α-galactosidase A activity and in females the determination of a disease-causing mutation. Current treatment options of enzyme replacement therapy and chaperone therapy can improve disease burden and quality of life.
What kind of disease is Fabry disease ( FD )?
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.
What kind of lysosomal storage disease is Fabry disease?
Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of α-galactosidase A (AGAL) caused by mutations in the α-galactosidase A gene (GLA).