The inherited metabolic disease

The Hereditary Metabolic Disease

The hereditary metabolic disease is a genetic ailment that causes issues with metabolism. The disorder is caused primarily by a faulty gene, which results in enzyme deficiency. Muscle weakness, convulsions, and kidney failure are all symptoms of this illness (Boelens & Wynn 2017). As a result, I get diabetes mellitus, which has a negative impact on my health.

The Fundamental Cause of an Inherited Disorder

The fundamental cause of an inherited disorder is a single enzyme that is either produced or not produced by the body in an inactive form. The missing enzyme functions mostly as an absentee worker from the assembly line. Moreover, depending on the work of the enzyme, the absence may mean toxic substances may build up or, on the other side, an outstanding product for the body may not be produced (Boelens & Wynn 2017). My condition is an inherited condition from my parents who were both carriers of the disorder. I inherited two defective copies of a defective gene from each of my parents. This means that I am unable to produce enough enzymes and therefore developed the condition.

Treatments for Inherited Metabolic Disorder

There are several available treatments for inherited metabolic disorder. Treatment available for the condition includes gene therapy, modifying the diet so as to reduce the amount of precursor that may not be metabolized efficiently, using vitamins and cofactors to improve the residual activity of the defective enzyme (Boelens & Wynn 2017). Other available treatments include organ transplant, using detoxifying agents that provide a pathway for removing toxic intermediates, and enzyme replacement. The condition affects my quality of life as I cannot have a normal life because I have to spend some time on medication. Consequently, it affects my relationship with other people.

Reference

Boelens, J. J., & Wynn, R. F. (2017). Inherited metabolic disorders. Clinical Manual of Blood and Bone Marrow Transplantation, 272-280.