Nutrition & Metabolism Disorders

Written by Sandy Calhoun Rice | Published on May 10, 2013
Medically Reviewed by George Krucik, MD, MBA on May 10, 2013

Nutrition & Metabolism Disorder Overview

Metabolism is the chemical process your body uses to transform the food you eat into the fuel that keeps you alive. Nutrition (food) consists of proteins, carbohydrates, and fats. These substances are broken down by enzymes in your digestive system, and then carried to the cells where they can be used as fuel. Your body either uses these substances immediately, or stores them in the liver, body fat, and muscle tissues for later use.

What Is a Metabolic Disorder?

A metabolic disorder occurs when the metabolism process fails and causes the body to have either too much or too little of the essential substances needed to stay healthy.

Our bodies are very sensitive to errors in metabolism. The body must have amino acids and many types of proteins to perform all of its functions. For example, the brain needs calcium, potassium and sodium to generate electrical impulses, and lipids (fats and oils) to maintain a healthy nervous system.

Metabolic disorders can take many forms. For instance:

  • a missing enzyme or vitamin that is necessary for an important chemical reaction
  • abnormal chemical reactions that hinder metabolic processes
  • disease in the liver, pancreas, endocrine glands or other organs involved in metabolism
  • nutritional deficiencies

What Causes Metabolic Disorders?

You can develop a metabolic disorder if certain organs (for instance, the pancreas or the liver) stop functioning properly. These kinds of disorders can be a result of genetics, a deficiency in a certain hormone or enzyme, consuming too much of certain foods, or a number of other factors.

There are hundreds of genetic metabolic disorders caused by mutations of single genes. These mutations can be passed down through generations of families. According to the National Institutes of Health (NIH), certain racial or ethnic groups are more likely to pass on defective genes for particular inborn disorders (NIH). The most common of these are:

Types of Metabolic Disorders

Diabetes is the most common metabolic disease. There are two types of diabetes: type 1, the cause of which is unknown—although there can be a genetic factor—and type 2, which can be acquired, or potentially caused by genetic factors as well. According to 2011 data from the American Diabetes Association, 25.8 million children and adults, or about 8 percent of the U.S. population have diabetes (ADA, 2011).  

In type 1 diabetes, the T cells attack and kill beta cells in the pancreas, the cells that produce insulin. Over time, a lack of insulin can cause nerve and kidney damage, eyesight impairment, and increased risk of heart and vascular disease.

Hundreds of inborn errors in metabolism (IEM) have been identified, and most are extremely rare. However, it is estimated that IEM collectively affects 1 in every 1,000 infants. Many of these disorders can only be treated by limiting dietary intake of the substance or substances the body cannot process. 

The more common types of nutritional and metabolic disorders include:

  • Gaucher’s disease: This condition causes an inability to break down a particular kind of fat, which accumulates in the liver, spleen and bone marrow. This inability can result in pain, bone damage and even death. It is treated with enzyme replacement therapy.
  • Glucose galactose malabsorption: This is a defect in the transport of glucose and galactose across the stomach lining which leads to severe diarrhea and dehydration. Symptoms are controlled by removing lactose, sucrose and glucose from the diet.
  • Hereditary hemochromatosis:  In this condition, excess iron is deposited in several organs, and can cause liver cirrhosis, liver cancer, diabetes, and heart disease. It is treated by removing blood from the body (phlebotomy) on a regular basis.
  • Maple syrup urine disease:  This condition disrupts the metabolism of certain amino acids, causing rapid degeneration of the neurons. If not treated, it causes death within the first few months after birth. Treatment involves limiting the dietary intake of branched-chain amino acids.
  • Phenylketonuria (PKU):  PKU causes an inability to produce the enzyme, phenylalanine hydroxylase, resulting in organ damage, mental retardation and unusual posture. It is treated by limiting the dietary intake of certain forms of protein.               

Metabolic disorders are highly complex and rare. Even so, they are the subject of ongoing research, which is also helping scientists to better understand the underlying causes of more common problems such as lactose, sucrose, and glucose intolerance, and the overabundance of certain proteins.

Was this article helpful? Yes No

Thank you.

Your message has been sent.

We're sorry, an error occurred.

We are unable to collect your feedback at this time. However, your feedback is important to us. Please try again later.

Article Sources:

Recommended for You

Best Healthy Lifestyle iPhone & Android Apps of the Year
Best Healthy Lifestyle iPhone & Android Apps of the Year
Get the most out of your phone or tablet with the best healthy living apps of the year. From exercise diaries to sleep trackers, they're all here.
15 Healthy Mother's Day Gifts
15 Healthy Mother's Day Gifts
From a bottle of red wine to private yoga lessons, we’ve got 15 great ideas for the perfect Mother’s Day gift that will keep your mom happy and healthy.
Exercise Addiction: How Much Is Too Much?
Exercise Addiction: How Much Is Too Much?
For most people, exercise is a healthy activity, but it can be done to excess. In this slideshow, learn more about exercise addiction, and how to know when you might be overdoing it.
Kegel Exercises for Men
Kegel Exercises for Men
Kegel exercises are often recommended to women, but did you know that they can be helpful for men too? Learn how Kegel exercises can be beneficial for men’s sexual and prostate health.
7 Easy Exercises to Beat Osteoarthritis Pain
7 Easy Exercises to Beat Osteoarthritis Pain
Osteoarthritis affects nearly 27 million Americans, but exercise has been found to help. Try these seven exercises for better joint health.
Advertisement
Advertisement
Advertisement