Inborn Errors of Metabolism (IEM): What is it and how it works in human body

Metabolism is the process of converting food into energy that fuels our cells. Our metabolic rate is affected by a variety of factors, including age, gender, weight, physical activity and health problems.

The term inborn error of metabolism was first used in 1908, by a British physician, Archibaldgarrod (1857–1936). His work is considered a precursor to the “one gene one enzyme” hypothesis.

He did studies on the nature and heritage of Alkapatanuria. His seminal text, The Endogenous Error of Metabolism, was published in 1923.

What is Inborn Errors of Metabolism?

Every cell in your body needs energy—whether it’s delivering nutrients to your brain, pumping oxygen from your lungs to your muscles, or making white blood cells deep in your bone marrow.

You get this energy from the calories in the food you eat. Metabolism is the name for the system in which your body that converts calories into energy (also known as blood sugar).

Inborn metabolic errors are extremely rare inherited illnesses in which our bodies are unable to transform food into energy.

This happens when an enzyme or its cofactor, which aids in the conversion of food into energy, is missing entirely or partially.

A food product that does not break down into energy can build up in the body and cause a wide range of symptoms.

Many inborn errors of metabolism cause developmental delays or other medical problems if they are not controlled.

Disorder of Protein Metabolism:

  • Alcaptonuria: Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder.
  • Phenylketonuria: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.
  • Tyrosinemias: Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.
  • Albinism: it is a group of inherited disorders where there is little or no production of the pigment melanin. The type and amount of melanin your body produces determines the color of your skin, hair and eyes.
  • Arginimia: Arginemia (also called arginase deficiency) is a congenital disorder where arginase deficiency causes a high level of arginine and ammonia in the blood.

Types of Inborn Errors of Metabolism:

There are different types of inborn errors of metabolism.

Some of them are:

  • Fructose intolerance
  • Galactosemia
  • Maple Sugar Urine Disease (MSUD)
  • Phenylketonuria (PKU)
  • Newborn screening tests can identify some of these disorders.

How metabolism works?

Hormones and the nervous system control our metabolism. When we consume food, digestive enzymes break down carbohydrates, fats, and proteins into a form that the body can use for growth or energy.

During metabolism, two activities occur at the same time – the formation of body tissue and the storage of energy, or anabolism and catabolism. Metabolism is a balanced function of these processes.

Anabolism – The process in which energy is used for the growth of new cells and to maintain the tissues of our body, and the energy is stored as fat

Catabolism – An energy-releasing process where larger molecules from our food, such as carbohydrates, fats, and proteins, are broken down into smaller molecules to provide immediate energy for the body. This energy provides fuel for processes such as heating the body and allows our muscles to move.

Symptoms of Inborn Errors of Metabolism

  • Lethargy
  • Loss of appetite
  • Stomach ache
  • Vomit
  • Weight loss
  • Jaundice
  • Difficulty gaining or losing weight
  • Stunted growth
  • Prolonged unconsciousness
  • All these symptoms can appear suddenly and gradually.

Treatment for Inborn Errors of Metabolism

There are a lot of risk-factors that come along with metabolic disorders like high blood pressure, high blood sugar, unhealthy cholesterol levels etc. Treatment focuses on dealing with all of these factors. Lifestyle changes are very important to help the treatment work, eating healthy foods and in general eliminating the risk-factors completely by adopting a healthy lifestyle.

According to Consultants and Specialist:

  • For high blood pressure medicines like Capoten, Vasotec, Cozaar and Diovan are recommended along with diuretics and some other medicines.
  • LeCol, Mevacor, Pravachol, Zetia, and other drugs are taken for cholesterol medications.
  • For Diabetes Actos, Avandia, Glucophage is recommended.
  • People prone to blood clots may need to take a lower dose of aspirin which helps in reducing the risk of heart attack and stroke.
  • Surgery is not usually performed for metabolic disorders, but bariatric surgery can have beneficial results in the case of morbidly obese people.
  • For people with sleep apnea, CPAP therapy is used which is continuous positive airway pressure therapy.

People who are suffering from metabolic disorders should be very careful about the diet they eat. They should not contain food products that can worsen the condition. Contains food products that are healthy which will work wonders for people suffering from the condition of metabolic disorders.

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