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Medium-chain acyl-CoA dehydrogenase deficiency

(Medium • chain • ace-uhl • koh-AY • dee-hie-DRAH-juh-nace • di-FISH-uhn-see)

General Condition Information

Other Names

  • MCAD deficiency
  • Medium chain acyl CoA dehydrogenase deficiency
  • Medium chain acyl-CoA dehydrogenase
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Medium chain acylCoA dehydrogenase deficiency
  • Medium-chain acyl-CoA dehydrogenase

Condition Type

Birth Prevalence

  • Hundreds of babies are born with this condition each year in the United States.
  • This condition is more common in babies of Northern European descent.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

High C8 acylcarnitine with or without high C6 and C10 acylcarnitines

What is Medium-chain acyl-CoA dehydrogenase deficiency

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited (genetic) condition that prevents the body from breaking down certain fats and turning them into energy. 

MCAD is an enzyme that processes a type of fat called medium-chain fatty acids. This enzyme helps break down these fatty acids so your body can use or get rid of them. 

Without enough of this enzyme, the body has trouble using fats for energy. This condition can be more or less severe depending on how much of the enzyme your baby can make.

Breaking down fat for energy allows your body to work properly, and it is especially important after a long time without food (fasting) and during illness. If your body does not make enough energy from fat, blood sugar levels can become dangerously low.

If untreated, the lack of energy leads to the signs and symptoms of the condition. In severe cases, this condition can result in brain damage, coma, or death if not treated early.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. 

Treatments may include the following:

  • Regular and frequent meals and snacks
  • Diet high in carbohydrates and low in fat
  • L-carnitine supplements to help the body break down fats
  • People with MCAD deficiency must be very careful if they get sick and have vomiting or diarrhea, or do not want to eat. They may need emergency care to prevent low blood sugar levels.

Children who receive early and continuing treatment for MCAD deficiency can have healthy growth and development.

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