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Carnitine-acylcarnitine translocase deficiency

(KAHR-nuh-teen • ace-uhl-KAHR-nuh-teen • trans-LOH-kase • di-FISH-uhn-see)

General Condition Information

Other Names

  • Carnitine acyl-carnitine translocase deficiency
  • Carnitine acylcarnitine translocase
  • Carnitine acylcarnitine translocase deficiency
  • Carnitine/acylcarnitine translocase deficiency
  • Carnitine: acylcarnitine translocase deficiency

Condition Type

Birth Prevalence

  • It is unknown how many babies are born with this rare condition each year in the United States.
  • Visit Gene Reviews to learn more about how often this condition occurs.

Screening Finding

High levels of C16 and C18:1 acylcarnitines

What is carnitine-acylcarnitine translocase deficiency

Carnitine-acylcarnitine translocase (CACT) deficiency is an inherited (genetic) condition that prevents the body from breaking down certain fats and turning them into energy.

CACT is a protein in your body that helps with the processing of a type of fat called “long-chain fatty acids.” CACT is a transporter, which is a type of protein that moves substances where they need to go inside your cells.

Without enough working CACT transporter, your baby can have trouble using fats for energy. This condition can be more or less severe depending on how many normal copies of the transporter your baby can make.

Breaking down fat for energy allows your body to work properly. Energy from fat 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.

When fats are not processed, waste can build up, including toxins. These toxins can cause damage to your liver, heart, and muscles. If untreated, the lack of energy and increased toxins lead to the signs and symptoms of the condition.

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
  • Medium chain triglyceride (MCT) oil supplements to provide fats the body can break down
  • L-carnitine supplements to help the body break down fats (in some cases)

Children who receive early and ongoing treatment for CACT deficiency can help prevent or control symptoms. Even with treatment, some children may still experience heart, liver, or lung problems.

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