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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
Recombinant human α-Galactosidase, marketed as Agalsidase beta and Agalsidase alfa, is used as an enzyme replacement therapy for Fabry disease.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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