MCAD Deficiency

What is MCAD Deficiency?

Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme used to digest certain types of fat, and people with a MCAD don’t produce enough of it. This makes it hard to process medium-chain fats like coconut and palm oils.

Since dietary fat is essential for brain function as well as overall health, this genetic disorder must be diagnosed early in life to prevent serious complications. Children who go too long without treatment may end up permanently brain damaged, in need of a liver transplant, or in a coma.

What are the Symptoms of MCAD Deficiency?

A failure to thrive is the earliest sign a child is not digesting something properly or missing a crucial element of their diet.

Symptoms include

  • Lethargy and sluggish behavior
  • Vomiting after eating any meal with even the smallest amounts of medium-chain fats
  • Hypoglycemia, low blood sugar, and the resulting symptoms like nausea and lightheadedness between meals
  • Increase in symptoms when fasting or skipping meals

Since the disorder sets in during infancy, it’s easy to overlook the first symptoms. Paying close attention to your baby is essential so that serious nutritional issues like MCAD deficiency are detected before permanent damage is done. It’s easy to confuse the signs of this disorder with other childhood illnesses, so gene testing is necessary to rule out this problem.

MCAD Deficiency Causes

The primary cause of MCAD deficiency is genetics – an inherited autosomal recessive trait. The signs appear most often in infants and younger children. When both parents pass the inherited trait on to the offspring the risk of developing the condition increases. If only one parent is a carrier, the gene is passed to the child, who becomes a carrier with no signs of the disorder.

The mutated gene inhibits the production of the MCAD enzyme necessary in breaking down fatty acids found in foods. The body relies on the fat, converting it into energy for the heart and muscles. When the fats are not converted, there is an abnormal buildup of fatty acids in the body’s tissues, which can lead to organ malfunctions.

When you don’t eat for an extended period, the condition is triggered. Viral infections or illnesses can instigate the condition since the MCAD enzyme also lives in the white blood cells used to fight infection. Diets high in fat and low in carbohydrates contribute to the condition by interrupting the metabolic processes, leading to MCAD deficiency.

How is MCAD Deficiency Treated?

Avoiding medium-chain fats is the first step in addressing this deficiency. Sticking to a tight schedule of meals also prevents hypoglycemia from setting in. High carbohydrate and protein-heavy diets are recommended, with careful amounts of safe fats mixed in with supervision.

A relatively safe supplement known as L-carnitine can also help, but only if recommended by the doctor overseeing the child’s treatment.

MCAD Deficiency Prevention

Genetics can’t be changed, but the risks and effects can be reduced, preventing complications caused by MCAD deficiency.

The best prevention for infants and young children is eating scheduled meals. Parents need to follow a dietary plan to aid the MCAD enzyme in breaking down the fats in the foods ingested. Your doctor can recommend working with a dietician if changes are necessary.

If you are a carrier, talk with your doctor and make sure the family’s medical records are available and always updated. Take the time to learn about the condition, whether you have symptoms or not; the information will help with your own health and your child’s.