Metabolism is a chemical process of the body that transforms ingested food into the fuel that keeps the body functioning.
Food consists of proteins, carbohydrates and fats. These nutrients are broken down by enzymes in the digestive system and are transported into the cells where they can be used as fuel. The body either uses these substances immediately or stores them in the liver, body fat or muscle tissues for later use.
Metabolic disorders occur when the metabolism process fails, which causes the body to either have too much or too little essential substances required to maintain healthy functioning.
The human body is very sensitive to metabolism disorders, and it needs amino acids and other types of protein to stay healthy. Example of essential substances needed by the brain to stay active includes calcium, potassium, sodium (to generate electrical impulses) and lipids to maintain a healthy nervous system.
This condition triggers an inability of the body to break down a particular kind of fat which leads to its accumulation in the liver, spleen and bone marrow. This inability can lead to body pain, bone damage and even death if left untreated. It can be corrected with enzyme replacement therapy.
MSUD disrupts the metabolism of some amino acids, which causes rapid degeneration of the neurons. If left untreated, it could lead to death within the first few months after birth. This disorder can be corrected by limiting the dietary intake of branched-chain amino acids.
PKU causes the body to stop producing an enzyme (phenylalanine hydroxylase) which results in organ damage, mental retardation and unusual body posture. It can be treated by limiting the dietary intake of certain forms of protein.
Disorders of the metabolism process are highly complex and rare which makes them the subject of ongoing research which also help scientists to grasp a better understanding of the underlying causes of other common disorders like lactose, sucrose, glucose intolerance and the overabundance of certain proteins.
If you have a metabolic disorder, you should work with your doctor to create a treatment plan that works for you.