Product Description: Price

Glycogen storage disease (GSD) type II, or Pompe disease, is a multisystem disorder, and is the prototype of an inborn lysosomal storage disease (LSD). The affected enzyme is lysosomal acid alpha-glucosidase (GAA or acid maltase), which is capable of degrading alpha-1,4 and -1,6 glycosidic bonds. Since lysosomes are present in nearly all cell types, deficiency in lysosomal GAA can affect nearly all organs. GSD type II patients may exhibit a wide range of clinical presentations. Rapid buildup of glycogen in skeletal muscle and the heart is frequently observed. Most severe is the classic infantile-onset disease with prominent cardiomegaly and hypotonia with death due to cardiorespiratory failure usually before 2 years of age. Late-onset type II GSD also exists, which is a slowly progressive myopathic disease involving predominantly skeletal muscle. As the disease progresses, breathing problems can lead to respiratory failure. Recombinant GAA protein (Lumizyme) is being used as therapy for the disease. The GAA Assay Kit is based on the hydrolysis of o-nitrophenyl-alpha-D-glucopyranoside, resulting in increased absorbance at 405 nm (extinction coefficient= 18 mM-1cm-1), allowing for sensitive and quantitative assay of GAA enzyme activity present in tissue/cell lysates and biological fluids. Kit components are stable for at least 1 year if stored and handled properly.

#Acidalpha-glucosidase #GSD #GlycogenStorageDisease #GAA #lysosome

Kit Components:

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

GAA Control Solution: 10 ml, store at 4ºC

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

MSDS:

TX-100, sodium acetate, acetic acid, 2-mercaptoethanol,

o-nitrophenyl-alpha-D-glucopyranoside

Related Kits:

alpha-Galactosidase Assay, beta-Galactosidase Assay