Helpful in the diagnosis of fabry's disease
Most recent research has shown that there are 2 alpha-galactosidaseactivities designated A and B. The B isoenzyme is more specific for alpha galactomine containing substrates. Its deficiency results in Schindler's disease. Globotriaosylceramide(ceramide trihexoside) is a neutral sphingolipid which is found in endothelial cells. The enzyme alpha-galactosidase is required for the cleavage of the terminal galactose moiety on the trihexoside. It is encoded on the X-chromosome. Deficiency of alpha-galactosidase in hemizygous males results in accumulation in the vascular endothelium. Female carriers often show the sequelae to accumulation late in life. As would be expected from the descriptive name, angiokeratoma corporis diffusum, clusters of dark red angiokeratomas occur primarily on the buttocks and in the umbilical area. Episodes of excruciating burning pain to extremities and cardiac and renal dysfunction occur.