Treatment

Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. Once identified, the disorder can be managed through diet and lifestyle.

The main goal of treatment for MCAD deficiency is to prevent problems caused by hypoglycemia from occurring. Infants with MCAD deficiency require frequent feedings with adequate calories from complex carbohydrates to maintain blood sugar and avoid hypoglycemia. Children and adults also require adequate complex carbohydrates on a regular schedule of eating. Work with your health care team, including a dietitian, to develop a treatment plan tailored to your child?s or your metabolic needs.

The length of time that is safe for fasting may vary with age and your health care team?s recommendations. For example, during the first four months of life, well infants' fasting time may be no longer than four hours. Fasting time may be gradually increased up to 12 hours by one year of age. Children and adults should not fast for longer than 12 hours.

Recommendations to prevent hypoglycemia generally include:

• Avoid fasting longer than recommended by your health care team
• Eat regular meals and snacks with adequate calories from complex carbohydrates, such as brown bread, rice, pasta and cereal, for energy needs
• Choose foods that are high in complex carbohydrates and lower in fat
• Increase calories by eating extra complex carbohydrates during illness, stress or increased activity

Your health care team may recommend a carnitine supplement to aid in fatty acid metabolism.

Talk with your doctor about what to do if hypoglycemia signs and symptoms develop so that you have an emergency plan. Strategies may include:

• Taking simple carbohydrates, such as sugar (glucose) tablets or sweetened, nondiet beverages.
• Seeking emergency medical care if unable to eat or for diarrhea or vomiting. An intravenous (IV) line for extra glucose and additional treatment may be needed.