Carbohydrate Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.

Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.

These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

Questions for your care team

General prompts to help prepare for your appointment.

• How does this information apply to my situation?
• Which symptoms or results need evaluation?
• Which tests are useful, and what can they tell us?
• What care options, benefits, and risks should we discuss?
• When should I seek urgent help, and whom should I call?
• When is follow-up, and how will we know whether the plan is working?