What enzyme is deficient in Fabry disease?

Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders.

What is alpha galactosidase deficiency?

Fabry disease is a rare genetic disease with a deficiency of an enzyme called alpha-galactosidase A. The disease affects many parts of the body including the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system. Symptoms of Fabry disease include: Episodes of pain and burning sensations.

What is the function of alpha galactosidase A?

α-Galactosidase A is encoded by the GLA gene and catalyzes the removal of terminal α-galactose groups from substrates such as glycoproteins and glycolipids. In patients with Fabry disease the loss of functional enzyme leads to the buildup of substrates, primarily globotriaosylceramide, in the tissues [1].

Does Fabry disease affect the liver?

Patients with Fabry disease also develop renal and liver failure, and hence the transplant team should be notified to determine if the patient is eligible.

How does lack of alpha galactosidase lead to Fabry disease?

The lack of alpha-galactosidase leads to Fabry disease. A deficiency of alpha galactosidase A (a-GAL A, encoded by GLA) due to mutation causes a glycolipid known as globotriaosylceramide (abbreviated as Gb3, GL-3, or ceramide trihexoside) to accumulate within the blood vessels, other tissues, and organs.

What should my alpha galactosidase level be?

Carriers usually have levels in the normal range. Deficiency (<0.016 U/L) of alpha-galactosidase in properly submitted specimens is diagnostic for Fabry disease in male patients. If concerned about specimen integrity, recheck using leukocyte testing (AGAW / Alpha-Galactosidase, Leukocytes).

What kind of lysosomal storage disorder is Fabry disease?

Fabry disease is an X-linked lysosomal storage disorder resulting from deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A) and the subsequent deposition of glycosylsphingolipids in tissues throughout the body; in particular, in the kidney, heart, and brain.

How does GL-3 accumulation lead to Fabry disease?

Although GL-3 accumulates in most cell types to varying degrees, the fundamental pathology in Fabry disease results from the microvascular endothelial accumulation, leading to ischemia and infarction, and fibrosis of the tissues normally nourished by these vessels.