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Defects in GLA are the cause of Fabry disease (FD) [MIM:301500]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome.
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