Abstract
Fabry disease (synonym: Morbus Fabry, Anderson Fabry disease) is an X-linked lysosomal storage disease due to a deficient activity of alpha-galactosidase A. This leads to pathological glycosphingolipid metabolism, resulting in deposition of glycosphingolipids in lysosomes and body fluids. There is evidence that the glycolipids also accumulate extralysosomally, which is a very important factor in the pathogenic impact.
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