Overview of Fabry
Fabry Disease, also known as Anderson-Fabry Disease, is closely related to mucopolysaccharidoses and is one of a number of disorders known as lysosomal storage diseases.
In the course of normal life there is a continuous recycling process which consists of building new materials and breaking down old ones ready for disposal. This activity takes place in a special part of the body’s cells called the lysosome. This process requires a series of biochemical tools called enzymes. Enzymes can only reach the lysosomes after a special signal has been attached to them.
Children and adults with Fabry are missing, or are deficient in an enzyme called alpha-galactosidase A which is essential in breaking down certain waste products in the lysosomes of many different types of cell. The main waste product is ceramide rihexosidase (CTH), also known as globotriaosylceramide, Gb3 or GI3.
When these waste products are not completely broken down they build up within the cells of the body causing progressive damage. Babies may show little sign of the disease but as more and more cells become damaged by an accumulation of these waste products, symptoms start to appear.
Fabry encompasses a wide spectrum of clinical symptoms which may or may not appear in all individuals with this disease. This, together with the rarity of the disease, often delays diagnosis. Many individuals may experience some of the symptoms that are outlined here before receiving an actual diagnosis of Fabry.
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