Product Description:

Fabry disease, an inherited multisystem disorder, is a lysosomal storage disease that is caused by mutations in the GLA gene, which encodes alpha-galactosidase A. The enzyme normally breaks down a fatty substance called globotriaosylceramide, which is a type of sphingoglycolipids important for the function of cells and tissues. Failure to turn over the sphingolipid causes accumulation of globotriaosylceramide in the lysosomes and hence sphingolipidosis. Beginning in childhood, this buildup causes many symptoms affecting many parts of the body. Features of Fabry disease may include episodes of pain, angiokeratomas, hypohidrosis, corneal opacity, G.I. malfunction, and etc. Potentially life-threatening complications such as stroke, kidney damage, and heart attack can occur. Recombinant alpha-GAL protein is being used as therapy for the disease. The alpha-galactosidase (alpha-GAL) assay is based on the hydrolysis of 4-nitrophenyl-alpha-D-galactopyranoside. Cleavage of pNA from the substrate increases absorbance at 405 nm (extinction coefficient= 18 mM-1cm-1), allowing for sensitive and quantitative assay of alpha-galactosidase enzyme activity present in tissue/cell lysates and biological fluids. Kit components are stable for at least 1 year if stored and handled properly.

Kit Components:

alpha-Galactosidase Assay Solution: 10 ml, store at -20ºC (for 100 wells)

alpha-Galactosidase Control Solution: 10 ml, store at 4ºC

10x Cell Lysis Solution: 25 ml, store at 4ºC

SDS:

TX-100, 2-mercaptoethanol, 4-nitrophenyl-alpha-D-galactopyranoside

Related Kits:

GAA Assay, beta-Galactosidase Assay