Metabolic Disorders

A metabolic [met-uh-BOL-ik] disorder is when something is wrong with the body's metabolism — the ability to turn food into energy and get rid of waste. The body has many different chemicals and processes that make metabolism work. There are many types of metabolic disorders because something can go wrong with any of these parts of the process. Sometimes the body doesn’t have the right enzyme to break down certain types of foods. For others, a process that turns food into energy may not be working properly, or the body may not be getting enough of a nutrient needed for metabolism. Or, one of the organs involved in metabolism could be diseased or damaged.

Symptoms of metabolic disorders depend on the disorder and how serious it is. Common symptoms include:

• Unintended weight loss, or a failure to gain weight and grow in babies and children
• Unexpected weight gain
• Tiredness and lack of energy
• Changes to the skin – color, bruising easily, thinning, slow to heal
• Belly pain and vomiting
• Decreased appetite
• Feeling hungry and thirsty, even though you are eating
• Developmental delays in babies and children — they don’t reach milestones when they are supposed to

See a doctor if you or your child:

• Is losing or gaining weight without intending to, or isn’t growing
• Feels hungry or thirsty a lot, even if you are eating and drinking
• Has to urinate often
• Is lethargic and has no energy
• Vomits or complains of belly pain often
• Has yellowish skin color (jaundice) or other skin changes
• Can’t do what other children the same age are able to do

Take your child to all checkups so the pediatrician can make sure your child is growing normally.

There are many causes to metabolic disorders.

• Some metabolic disorders are genetic. A gene that tells the body how to do a certain metabolic process or make a chemical or enzyme gets changed (mutates). This genetic change can be passed down from parents to children, or the change can happen on its own.
• Some metabolic disorders happen because an organ involved in metabolism gets diseased or damaged, like the pancreas or thyroid.
• Some metabolic disorders don’t have a known cause. For example, researchers aren’t sure why some people get type 1 diabetes, an autoimmune disorder.

To diagnose a metabolic disorder:

• The doctor will talk to you about your family’s health history and about your symptoms (or your child’s symptoms).
• The doctor may have you or your child do a blood test called a metabolic panel. This is a set of tests to check if you have the right type of chemicals in your blood for metabolism. Depending on your situation, the doctor may order a basic metabolic panel or a comprehensive metabolic panel, which includes more tests.

Treatment for metabolic disorders depends on the specific disorder. Common treatments include:

• Changes to diet and lifestyle. You may have to avoid certain foods that the body can’t handle and break down.
• Medicines. Medicine can be used to give the body what it doesn’t have enough of, like insulin in the case of diabetes. Medicines can also be used to control certain symptoms, help you feel better, and avoid life-threatening emergencies.

Many metabolic disorders can’t be prevented because they are genetic or the cause is unknown.

But there are things you can do to lower your risk for developing type 2 diabetes, the most common metabolic disorder:

• Stay at a healthy weight
• Eat healthy foods, like vegetables, whole grains, beans, fruits, and lean meats
• Stay active — move every day
• Drink water instead of juice, soda, or other drinks with sugar

NIH Genetic and Rare Diseases Information Center, “Metabolic Disorders”

NIH National Institute of Diabetes and Digestive and Kidney Disorders, “Choose More Than 50 Ways to Prevent Type 2 Diabetes”

American Diabetes Association

MedlinePlus

 

Metabolism describes the body’s ability to convert food and drink into energy. It’s a complex process that uses many different chemicals, hormones, cells, and organs to work properly. A metabolic (met-uh-BOL-ik) disorder is when something disrupts this process.

There are several different types of metabolic disorders. A disorder can be caused when:

• The body doesn’t have the right enzyme to break down certain types of foods, like fats, proteins, or carbohydrates. An enzyme is a substance that helps a chemical process happen — like breaking food down into something the body can use.
• A process that helps turns food into energy isn’t working properly. For example, sometimes the mitochondria of the cells can’t use sugars to make energy like they’re supposed to. The cells don’t get the energy they need and the sugars and oxygen build up and stay in the body.
• One of the organs involved in metabolism is diseased or damaged. It could be the pancreas, liver, endocrine glands (organs that release hormones), or another organ involved in metabolism.
• The body isn’t getting enough of a nutrient or mineral it needs to make metabolism work.

Many metabolic disorders are genetic (passed down through families) or autoimmune (when body tissues are attacked by its own immune system). Newborns are screened for several serious conditions, including metabolic, hormone, and blood disorders. Early detection and treatment of certain disorders can prevent lifelong health problems.

Some metabolic disorders develop during a person’s life. The most common is diabetes mellitus. Type 1 diabetes is an autoimmune problem — the body destroys the cells in the pancreas that make insulin. Insulin helps the body use glucose (sugar) in the body for energy. Type 2 diabetes is when the body makes insulin but can’t use it well anymore.