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Carnitine palmitoyltransferase II deficiency

(KAHR-nuh-teen • pahl-mitt-oil-TRANS-fuhr-ace • 2 • di-FISH-uhn-see)

General Condition Information

Other Names

  • Carnitine palmitoyl transferase deficiency type 2
  • Carnitine palmitoyl transferase deficiency type II
  • Carnitine palmitoyl transferase deficiency, type II
  • Carnitine palmitoyl transferase II deficiency
  • Carnitine palmitoyl transferase type II deficiency
  • Carnitine palmitoyltransferase 2 deficiency
  • Carnitine palmitoyltransferase deficiency II
  • Carnitine palmitoyltransferase deficiency type 2
  • Carnitine palmitoyltransferase deficiency type II
  • Carnitine palmitoyltransferase deficiency, type 2
  • Carnitine palmitoyltransferase type 2
  • Carnitine palmitoyltransferase type II
  • Carnitine palmitoyltransferase type II deficiency
  • Carnitine palmitoyltransferase, type II
  • Carnitinepalmitoyl transferase deficiency type II
  • CPT2 deficiency

Condition Type

Birth Prevalence

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

Screening Finding

High levels of C16 and C18:1 acylcarnitines

What is Carnitine palmitoyltransferase II deficiency

Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited (genetic) condition that prevents the body from breaking down certain fats and turning them into energy. 

There are three different types of CPT II deficiency based on when signs of the condition appear:

  • Newborn: Appears at birth.
  • Infant: Appears within the first year of life.
  • Myopathic: Appears later in life. This milder myopathic type is the most common type of CPT II deficiency.

“Carnitine palmitoyltransferase 2” is an enzyme that helps break down fats called “long chain fatty acids” so cells can process them properly. 

If your baby does not have enough of this enzyme, their body has trouble using fats for energy. This condition can be more or less severe depending on how much of the enzyme your baby’s body can make. 

Breaking down fat for energy allows your body to work properly. 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 builds up, including toxins. 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.

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)
  • Avoiding cold weather (in some cases)

Children who receive early and ongoing treatment for CPT II deficiency can have healthy growth and development. Some children will develop issues with their heart, lungs, or liver even with treatment.

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