Defective Enzymes

Enzymes are protein chemicals which carry the crucial energy needed for chemical reaction to take place in the body. Enzymes are formed by the molecules called ribonucleic acid found in the cell genes which are the hereditary materials have the RNA molecules within their cell nucleus and act as a template for the formation of enzymes. A defective genes or missing genes in a born living organism leads to the formation of an incomplete RNA molecule.


This also hinders ATP because it is involved only in normal body process.Metabolism is a process which involves interconversions and chemical process which takes pace in fluids of the body and within body cells. These processes include the buildup or breakdown of large molecules, the absorption of minerals and nutrients and the conversion of small molecules as well as energy production as a result of these various chemical reactions.


Each step in the metabolic processes is assisted by the enzymes. Enzyme disorders affect the normal functioning and cause gene abnormalities. The effects of such an errors leads to visible effects such as alkaptonuria which is characterized by the pigmentation of urine which is black in color (Barness, and Barness, 2000, pp 89).A lot of energy is required in the muscles to enable the ATP to work properly.

 


Metabolic diseases leads to exercise intolerance and muscle weakness coupled with cramps and muscle pains, developmental delays, neuropathy and growth problems. Sickle cell disease is caused by the alteration of a mutation process which affects the hemoglobin structure. In adults atherosclerotic is a common occurrence which is a type of heart disease as cause from genes abnormalities due to abnormalities in the metabolism of cholesterol.


Reference

Barness, E. G., and L (2000) Barness. Metabolic Diseases. Foundations of Clinical Management, Genetics, and Pathology. Natick, Mass.: Eaton Publishers.