Nutrition and Metabolism Disorders

How do Human Metabolisms Work?

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.

What are the Metabolic Disorders?

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.

Types of Metabolic Disorders include:

• Missing enzyme or vitamin which is essential for an important chemical reaction

• An abnormal chemical reaction that reduces or stops effective metabolic processes

• A disease in organs like liver, pancreas or endocrine glands involved in metabolism activity

• Nutritional deficiencies

What is the cause of Metabolic Disorders?

Metabolic disorders can develop if specific organs like the pancreas or liver stop normal functioning. Disorders of this variation can result from genetics, deficiencies in specific hormones or enzymes, indulging in an excess amount of certain substances or a combination of other factors.
A lot of genetic metabolic disorders are a result of mutations of single genes. These mutations are sometimes passed down through generations of families. According to the National Institutes of Health (NIH), the inheritance of mutated genes for some inborn disorders is more prominent in certain racial or ethnic groups.
The most common of these disorders are:
• Sickle cell anaemia, which is common among African Americans

• Cystic fibrosis common to people of European heritage

• The maple syrup urine disease among Mennonite communities

• Gaucher’s disease among Jewish people from Eastern Europe

• Hemochromatosis common to Caucasians in

Types of Metabolic Disorders

he most common disorder as a result of metabolism malfunction is Diabetes, and it comes in two forms:
• Type 1: Cause unknown but can be linked to a genetic factor.

• Type 2: Can be acquired or could be as a result of genetic factors as well.
According to the American Diabetes Association, about 30.3 million individuals (children and adults) which can be summed up to 9.4 per cent of the U.S. population have DiabetesDiabetes.
In type 1 diabetes, the immune system attacks and kills the beta cells in the pancreas, which is in charge of producing insulin and as time goes, the lack of insulin leads to:
• Nerve and kidney damage

• Eyesight impairment

• Increased risk of heart and vascular disease
Hundreds of congenital metabolism disorders have been identified but most of these are extremely rare. Although it is estimated that inborn errors in metabolism collectively affects 1 in every 1000 infants. A lot of these disorders can be treated just by limiting dietary intake substances the body cannot process.

The more Common Types of Nutritional and Metabolic Errors include:

Gaucher’s disease

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.

Glucose Galactose Malabsorption

This disorder affects the transportation of glucose and galactose across the stomach lining, which results in severe diarrhoea and dehydration. Its symptoms can be controlled by removing lactose, sucrose, and glucose from the diet.
Hereditary hemochromatosis
This cause excess iron to be deposited in several organs and can lead to:

• Liver cirrhosis

• Liver cancer

• Diabetes

• Heart disease
It can be treated by regular removal of blood from the body (phlebotomy).

Maple Syrup Urine Disease (MSUD)

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.

Phenylketonuria (PKU)

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.