Description
Description: This assay employs a two-site sandwich ELISA to quantitate MUT in samples. An antibody specific for MUT has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any MUT present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for MUT is added to the wells. After washing, Streptavidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of MUT bound in the initial step. The color development is stopped and the intensity of the color is measured.
Overview: Methylmalonyl Coenzyme A Mutase is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria.Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM). MMAM is an often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy