Carbohydrate Metabolism Disorders

How metabolism works

Metabolism is how your body makes energy from food. Food is made of proteins, carbohydrates and fats. Enzymes in your digestive system break them down into sugars and acids — your body's fuel — which it uses right away or stores in its tissues.

What goes wrong

In a metabolic disorder, something in this process fails. Carbohydrate metabolism disorders are one group:

• Normally, enzymes break carbohydrates down into glucose, a type of sugar.
• In these disorders, there may be too few enzymes, or they may not work properly.
• The result: a harmful amount of sugar builds up in the body, causing health problems, some serious. Some of these disorders are fatal.

Inherited — and screened for

These disorders are inherited.

• Newborn screening: blood tests check newborns for many of them.
• Family history: parents can have genetic testing to see whether they carry the gene.
• Before birth: other genetic tests can show whether a fetus has the disorder or carries the gene.

Treatment

Treatment may include special diets, supplements and medicines, and more if complications arise. Some disorders have no cure, but treatment can ease symptoms.

Sources

Based on "Carbohydrate Metabolism Disorders," MedlinePlus, U.S. National Library of Medicine; a work of the United States government in the public domain.