What is the metabolic abnormality in Fabry disease?
The deficient or absent α-Gal A activity results in the accumulation of glycolipids with terminal α-linked galactose molecules. As noted above, the major accumulated glycolipid is GL-3. In addition, galabiosylceramide, the blood group B glycolipid, and lyso-GL-3 accumulate in the lysosomes of various cell types. The major pathology leading to kidney failure results from the glycosphingolipid accumulation in the kidney microvascular endothelial cells, interstitial, mesangial, tubular cells, and particularly in the podocytes. In the Type 2 Later-Onset patients the kidney pathology results primarily from glycolipid accumulation in the podocytes.
