Alpha Galactosidase Fabry Blood Test

Alpha Galactosidase Test Overview

Alpha Galactosidase is part of a group of enzymes called glycosidases, which is enzyme for normal complex carbohydrate metabolism. This enzyme is essential for breaking down a type of fat called globotriaosylceramide, which can accumulate in different parts of the body and cause various health conditions. A deficiency of the enzyme is known to cause Fabry disease, an inherited condition that is known to cause intense pain, cardiac and renal issues, and digestive problems, among others.

The alpha galactosidase test is a crucial diagnostic tool that measures the activity of the enzyme alpha-galactosidase A (Gal A) in the body. This enzyme plays a vital role in breaking down specific fatty substances, particularly globotriaosylceramide (GL-3), which can accumulate in cells when there is a deficiency of alpha-galactosidase A. The test is primarily used to diagnose and monitor Fabry disease, a rare genetic disorder caused by mutations in the GLA gene, leading to the deficiency of this essential enzyme.

The alpha galactosidase blood test is typically performed using blood samples, specifically leukocytes (white blood cells) or serum. In newborns, the test can also be conducted using blood spots obtained through a heel prick.