Α-Galactosidase

Α-Galactosidase is an enzyme that hydrolyzes terminal, non-reducing α-D-galactose residues in α-D-galactosides, including substrates like melibiose, raffinose, and stachyose. It is encoded by the GLA gene in humans.

Function

Α-Galactosidase is a glycoside hydrolase involved in the breakdown of certain complex carbohydrates. It catalyzes the removal of terminal α-galactose residues, a critical step in the metabolism of certain oligosaccharides and glycolipids.

Clinical significance

Deficiency of α-Galactosidase is linked to Fabry disease, a rare genetic disorder characterized by a buildup of a particular type of fat in the body's cells. This can lead to a wide range of symptoms, including pain, skin rashes, kidney problems, and heart disease.

Therapeutic use

Recombinant human α-Galactosidase, marketed as Agalsidase beta and Agalsidase alfa, is used as an enzyme replacement therapy for Fabry disease.

See also

• Lactase
• Beta-galactosidase
• Galactosemia
• Lysosomal storage disease

External links

• GLA GeneCard