MCAD Deficiency

Diagnosis

MCAD deficiency is usually identified through newborn screening followed by confirmatory genetic testing.

Newborn screening is performed shortly after birth in many countries, including all states in the United States. A few drops of blood are taken from the baby’s heel and analyzed. If results fall outside the standard range, additional testing is arranged to confirm the diagnosis.

Genetic testing can identify the specific gene change that causes MCAD deficiency. Depending on the test, a sample of blood, saliva, cheek cells, skin or other tissue may be collected and analyzed in a laboratory. Testing of family members may also be recommended. Genetic counseling can help explain the testing process and clarify what the results mean.

Diagnosis and early management often involve a metabolic specialist and a registered dietitian. Laboratory tests may be done to evaluate metabolic function and help detect or prevent complications linked to problems with energy production.

Treatment

Newborn screening allows MCAD deficiency to be detected and treated early, often before symptoms develop. Early diagnosis helps prevent serious complications. Once identified, the condition is managed mainly through diet and lifestyle adjustments.

The primary goal of treatment is to prevent metabolic stress that can lead to low blood sugar levels. Maintaining stable blood sugar is essential.

To help maintain blood sugar levels and reduce the risk of hypoglycemia:

• Infants need frequent feedings with enough calories from complex carbohydrates

• Children and adults should follow a regular schedule of meals and snacks that provide sufficient complex carbohydrates

Your health care team may suggest additional treatment strategies based on your age, activity level and overall health.

Working closely with your health care team, including a registered dietitian, helps ensure a plan tailored to your energy needs. Planning often includes increasing complex carbohydrate intake during illness, stress or periods of high physical activity.

Limit fasting

Safe fasting times vary by age and individual medical recommendations. During the first four months of life, healthy infants should generally not go without food longer than two to three hours. Fasting time may gradually increase up to about 12 hours by one year of age. Children and adults are usually advised not to fast longer than 12 hours.

Prevent hypoglycemia

General recommendations to help prevent low blood sugar include:

• Avoid fasting longer than advised by your health care team

• Eat regular meals and snacks with enough calories from complex carbohydrates, such as bread, rice, pasta and cereal

• Choose foods higher in complex carbohydrates and lower in fat

• Increase calorie intake from complex carbohydrates during illness, stress, increased activity or before sleep

• Limit alcohol consumption

Treat hypoglycemia

Discuss an emergency plan with your health care provider so you know what to do if symptoms of low blood sugar occur. Treatment strategies may include:

• Consuming simple carbohydrates, such as glucose tablets or non-diet sweetened drinks like juice

• Seeking emergency medical care if you are unable to eat or if vomiting or diarrhea occurs, as intravenous glucose and additional treatment may be required

With early diagnosis and careful management, most people with MCAD deficiency can prevent serious complications and maintain good health.