Alpha-galactosidase is a glycoside hydrolase

Glycoside hydrolase

Glycoside hydrolases catalyze the hydrolysis of the glycosidic linkage to release smaller sugars...

 enzyme

Enzyme

Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

 that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It is encoded by the gene.

Function

This enzyme is a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose.

Pathology

A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry's disease

Fabry's disease

Fabry disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms...

, a rare lysosomal storage disorder and sphingolipidosis that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties.

Two enzyme replacement therapies

Enzyme replacement therapy

Enzyme replacement therapy is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent. Usually this is done by giving the patient an intravenous infusion containing the enzyme...

 are available to functionally compensate for alpha-galactosidase deficiency. Agalsidase alpha and beta are both recombinant

Recombinant DNA

Recombinant DNA molecules are DNA sequences that result from the use of laboratory methods to bring together genetic material from multiple sources, creating sequences that would not otherwise be found in biological organisms...

 forms of the human α-galactosidase A enzyme and both have the same amino acid sequence as the native enzyme. Agalsidase alpha and beta differ in the structures of their oligosaccharide

Oligosaccharide

An oligosaccharide is a saccharide polymer containing a small number of component sugars, also known as simple sugars...

 side chains.

Agalsidase alpha

The pharmaceutical company Shire manufactures agalsidase alpha under the brand name Replagal as a treatment for Fabry's disease., and was granted marketing approval in the EU in 2001. , FDA approval is still pending before the drug can be marketed in the United States.

Agalsidase beta

The pharmaceutical company Genzyme

Genzyme

Genzyme Corporation is a fully owned subsidiary of Sanofi-Aventis. Before its acquisition, Genzyme was an American biotechnology company based in Cambridge, Massachusetts. In 2010, Genzyme was the world’s third-largest biotechnology company, employing more than 11,000 people around the world...

 produces synthetic agalsidase beta under the brand name Fabrazyme for treatment of Fabry's disease. In 2009, contamination at Genzyme's Allston, Massachusetts plant caused a worldwide shortage of Fabrazyme, and supplies were rationed to patients at one-third the recommended dose. Some patients have petitioned to break the company's patent on the drug under the "march-in" provisions of the Bayh–Dole Act.

See also

• Beano (dietary supplement)
  Beano (dietary supplement)
  Beano is an enzyme-based dietary supplement that is used to reduce gas in the digestive tract, thereby improving digestion and reducing bloating, discomfort, and flatulence caused by gas. It contains the enzyme alpha galactosidase that breaks down oligosaccharides such as raffinose...
  
  
• Beta-galactosidase
  Beta-galactosidase
  β-galactosidase, also called beta-gal or β-gal, is a hydrolase enzyme that catalyzes the hydrolysis of β-galactosides into monosaccharides. Substrates of different β-galactosidases include ganglioside GM1, lactosylceramides, lactose, and various glycoproteins...
  
  
• Classification of α-galactosidases (according to CAZy)

Further reading

External links