Knowra Fabry disease Fabry disease Fabry disease is an inherited X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A. Its resulting buildup of globotriaosylceramide and related lipids can progressively damage the kidneys, heart, nervous system, and blood vessels.
GLA gene : The gene encoding alpha-galactosidase A, whose pathogenic variants cause Fabry disease. Pathogenic variants in this gene reduce or eliminate the enzyme that clears Fabry-associated lipids.
Fabry disease screening : Testing people or populations for Fabry disease before or soon after symptoms appear. Screening can identify affected relatives and people with unexplained kidney, heart, or neurologic disease.
Fabry disease in women : Fabry disease in females with a pathogenic GLA variant, with severity ranging from mild to substantial. X-chromosome inactivation can produce highly variable symptoms among women with the same familial variant.
Gaucher disease : An inherited lysosomal storage disorder caused by deficient glucocerebrosidase and accumulation of glucosylceramide. It shares an inherited lipid-storage mechanism but affects different substrates and commonly different organs.
Alpha-galactosidase A : A lysosomal enzyme that breaks down globotriaosylceramide and related substrates. Its deficient activity initiates the substrate buildup characteristic of Fabry disease.
Alpha-galactosidase A assay : A laboratory test measuring alpha-galactosidase A activity in blood cells, plasma, or dried blood spots. Low enzyme activity supports diagnosis, especially in affected males.
Fabry cardiomyopathy : Heart muscle disease caused by Fabry-related substrate accumulation, often involving ventricular thickening and rhythm abnormalities. Cardiac involvement may dominate the clinical picture, particularly in later-onset forms.
Pompe disease : A lysosomal storage disorder caused by deficient acid alpha-glucosidase and glycogen accumulation. Both are enzyme-deficiency disorders, but Pompe disease primarily causes glycogen-related muscle and heart disease.
Globotriaosylceramide : A glycosphingolipid, also called Gb3, that accumulates when alpha-galactosidase A activity is insufficient. This substrate accumulates in affected cells and is used to assess disease burden.
Genetic testing : Analysis of DNA to identify genetic variants associated with disease. Testing the GLA gene confirms many diagnoses and identifies affected family members.
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