【项目简介】
Human α-Galactosidase A is a homodimeric glycoprotein that can release terminal αgalactosyl moieties from glycolipids and glycoproteins and catalyze the hydrolysis of melibiose into galactose and glucose . It is a lysosomal enzyme and is responsible for degradation of glycolipid globotriaosylceramide (Gb3) (Galα14Galβ14Glcβceramide). Mutations in this gene cause Fabry disease, an Xlinked hereditary lysosomal storage disease with the accumulation of Gb3 in the walls of small blood vessels, nerves, dorsal root ganglia, renal glomerular and tubular epithelial cells, and cardiomyocytes . Inability to prevent the glycosphingolipid deposition can cause hypertension, strokes, heart attack and progressive renal failure . Current treatment for Fabry disease is enzyme replacement therapy using intravenously delivered recombinant α-Galactosidase A .

【检验原理】
本试剂盒采用双抗体夹心ELISA法。酶标微孔板上预包被有抗人alpha-Galactosidase A抗体，当加入标准品和待测样本时，标准品和待测样本中的人alpha-Galactosidase A会和该抗体结合。洗板后，游离的其他成分被洗去，加入辣根过氧化物酶标记的的抗人alpha-Galactosidase A抗体可与被酶标板捕获的人alpha-Galactosidase A结合，形成“包被抗人alpha-Galactosidase A抗体+人alpha-Galactosidase A+抗人alpha-Galactosidase A抗体-HRP”免疫复合物。当加入TMB显色底物后，复合物上连接的HRP催化底物反应，生成蓝色产物，终止反应后变为黄色。在450nm处测定OD值，人alpha-Galactosidase A浓度与OD450值之间呈正比，可通过绘制标准曲线求出标本中人alpha-Galactosidase A的浓度。