Enzymopathy is a disorder that results in missing or defective enzymes. The disease is often considered a genetic disorder, as most individuals with enzymopathy are born with defective enzymes. The two most common forms of Enzymopathy are a result of disabled enzymes or mutated reactions. In the first form, the enzyme is completely disabled and cannot aid in chemical reactions within the body. The second form occurs when the need for the enzyme and cofactor are multiplied within a reaction, causing fewer reactions to occur due to the deficiency of the enzyme. Enzymopathy can be diagnosed by testing for a variety of enzymes and determining which ones are not working. Treatment methods include dietary restrictions or supplements, enzyme replacement, or the treatment of specific symptoms on a case by case basis.
Enzymopathy Bioinformatics Tool
Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Enzymopathy below!
For more information on how to use Laverne, please read the How to Guide.
We have 952 products for the study of Enzymopathy that can be applied to Western Blot, Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry from our catalog of antibodies and ELISA kits.