Fabry Syndrome

Synonyms

Alpha-galactosidase A deficiency; Anderson-Fabry syndrome; Angiokeratoma corporis diffusum; Ceramide trihexosidase deficiency; GLA deficiency; Hereditary dystopic lipidosis; OMIM 301500

Definition

An X-linked disorder affecting multiple organ systems characterized by an enzymatic defect due to a reduction in the catabolism of compounds comprising galactosyl, resulting in a deficiency of the lysosomal enzyme α-galactosidase A. This deficiency leads to pathology in multiple organs.

Description

This deficiency results in the altered metabolism and an accumulation of globotriaosylceramide and other neutral glycolipids in various tissues throughout the body such as the heart, peripheral, and central nervous systems leading to pathology in multiple organs. Fabry syndrome (FS) is an X-linked disorder that manifests in males as well as females. Although symptom presentation in females is variable, some females experience symptoms characteristic of their male