Filling in the gap...
Metabolism is the means by which the body derives energy and synthesizes the other molecules it needs from the fats, carbohydrates and proteins we eat as food, by enzymatic reactions helped by minerals and vitamins.
Metabolic diseases are caused by errors in metabolic processes, however there is actually a significant level of tolerance of errors in our body. Often, a mutation in one enzyme does not mean an individual will suffer from a metabolic disease. Disease will only occur if a critical enzyme is disabled or if a control mechanism for a metabolic pathway is affected. For example, Phenykentonuria is a disease with the deficiency of the PKU enzyme.
Hereditary diseases are illnesses passed down through generations of the same family from parent to child. Hemophilia, for example, involves missing essential blood clotting factors, leads to excess bleeding and inadequate coagulation,. Primary Immune Globulin deficiency is the lack of certain immune globulins in the body that help protect from infections.
Other than precautionary measures and symptom management, many metabolic and hereditary diseases have no treatment. In these instances, supportive therapy can improve quality of life. Examples of metabolic and hereditary diseases treated with home infusion supportive therapy at Home Care I. V. include:
- Hemophilia
- Hereditory Hemachromatosis
- Immune Globulin Deficiency
- Menke's Syndrome
- Porphyria
- Wilson's Disease
- Zellwegger's Syndrome
For more information on metabolic and nutritional disease, please visit the National Center for Biotechnology Information (NCBI) web site.
