Use

This test is useful for the detection of fucosidosis, an autosomal recessive lysosomal storage disorder. Fucosidosis is caused by reduced or absent alpha-L-fucosidase enzyme activity, leading to the accumulation of fucose-containing complex molecules in cells. Determining enzymatic activity is part of the diagnostic procedure for individuals clinically suspected of oligosaccharidosis or with a positive screening suggestive of fucosidosis.