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Mitochondrial trifunctional protein deficiency

(mie-tuh-KAHN-dree-uhl • trifunctional • protein • di-FISH-uhn-see)

General Condition Information

Other Names

  • TFP deficiency
  • Trifunctional protein deficiency

Condition Type

Birth Prevalence

It is unknown how many babies are born with this rare condition each year in the United States.

Screening Finding

Elevated C16-OH +/- C18 and other long chain acylcarnitines

What is Mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein deficiency is an inherited (genetic) condition that prevents the body from breaking down certain fats and turning them into energy.

The term mitochondrial trifunctional protein refers to a group of enzymes in your body that processes types of fat called long-chain fatty acids. These enzymes help break down these fatty acids so that your body can use them or get rid of them.

Without enough working mitochondrial trifunctional protein, the body has trouble using fats for energy. This condition can be more or less severe depending on how much mitochondrial trifunctional protein 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.

When fats are not processed, waste (including toxins) can build up. These toxins can damage your liver, heart, and muscles.

If untreated, the lack of energy and increased toxins lead to the signs and symptoms of the condition. In severe cases, this condition can result in 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
  • Medium chain triglyceride (MCT) oil to help give the body fats it can break down
  • L-carnitine supplements to help the body break down fats
  • People with mitochondrial trifunctional protein 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 ongoing treatment for mitochondrial trifunctional protein deficiency can have healthy growth and development.

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