MCAD Deficiency

Medium-chain acyl-coenzyme A (acyl-CoA) dehydrogenase (MCAD) deficiency is a condition that prevents your body from turning fats into energy. This condition is most prevalent when you fast or don’t eat food for long periods of time.

In your body, there are enzymes that process food. There is a specific enzyme (medium-chain acyl-CoA dehydrogenase) that targets a group of fat called medium-chain fatty acids to convert it into a substance that your body can use (metabolize) as energy. People who have MCAD deficiency don’t have enough of this enzyme and are unable to metabolize medium-chain fatty acids.

Who does MCAD deficiency affect?

MCAD deficiency affects people who receive a mutated copy of the ACADM gene from their parents. MCAD deficiency is a genetic condition that you inherit when both of your parents carry a copy of the mutated ACADM gene, and you inherit the mutated copy from each of your parents (autosomal recessive). Parents who carry a mutated gene have a risk of passing the gene onto their children. If both parents are carriers, the risk of passing the genetic condition onto their child is 25%. There is a 50% chance that their child will not have the condition but be a carrier, similar to their parents. There is also a 25% chance that their child won’t receive any mutated genes and won’t be a carrier.

There’s nothing parents can do to prevent genetic mutations from passing to their children before or during pregnancy.

How common is MCAD deficiency?

MCAD deficiency occurs in about 1 out of every 15,000 individuals. MCAD deficiency is most common among people with northern European ancestry.

How will MCAD deficiency affect my baby’s body?

MCAD deficiency affects your baby’s ability to turn fat into a source of energy. If your baby’s needs for energy aren’t met by the amount of energy it can create, especially during an illness or when they’re unable to eat, it can make your baby feel sick, nauseated and tired.