What's New

Fabry Disease

News: The Union Ministry of Health and Family Welfare was contacted by the Lysosomal Storage Disorders Support Society in order to request quick action for the treatment of Fabry Disease sufferers.

Fabry disease is a rare genetic condition of glycosphingolipid (fat) metabolism caused by a lack of alpha-galactosidase A (-Gal A) or its activity being significantly reduced.

It is a member of a class of conditions called lysosomal storage disorders.

The -galactosidase A (GLA) gene, which directs cells to produce the -galactosidase A (-Gal A) enzyme, has changed (mutated), resulting in this enzymatic deficit.

Cells’ principal digesting system is the lysosome.

Symptoms include heat or cold intolerance, acute pain during physical exertion, numbness, tingling, burning, or pain in the hands or feet, among others.

Heart disease or kidney failure may be the earliest signs of a problem.

Enzyme replacement treatment (ERT) either intravenously or oral chaperone therapy are used to treat the patients.