Alpha-galactosidase-A hydrolyzes the terminal alpha-galactosyl moieties from glycolipids and glycoproteins in lysosomes. Mutations in α-galactosidase cause lysosomal accumulation of the glycosphingolipid, globotriaosylceramide, which leads to Fabry disease. In males, the most efficient and reliable method for confirmation of the diagnosis is the demonstration of deficient alpha-galactosidase A enzyme activity in plasma, isolated leukocytes, and/or cultured cells. The test is a fluorometric assay using the alternative substrate 4-methylumbelliferyl-alpha-D-galactopyranoside. Males with classic Fabry disease have less than 1% alpha-galactosidase A activity.
Chemediate provides assay kit for detecting Alpha-galactosidase activity in either the purified form or biological samples. Pretreatment of samples are not required. Alpha-galactosidase activity can be measured using fluorometer (Ex/Em = 360/440 nm).