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Carnitine palmitoyltransferase I deficiency

(KAHR-nuh-teen • pahl-mitt-oil-TRANS-fuhr-ace • 1 • di-FISH-uhn-see)

General Condition Information

Other Names

  • Carnitine palmitoyl transferase deficiency I
  • Carnitine palmitoyl transferase deficiency type I
  • Carnitine palmitoyl transferase deficiency, type 1A
  • Carnitine palmitoyl transferase deficiency, type I
  • Carnitine palmitoyl transferase I deficiency
  • Carnitine palmitoyltransferase 1 deficiency
  • Carnitine palmitoyltransferase deficiency 1a
  • Carnitine palmitoyltransferase deficiency I
  • Carnitine palmitoyltransferase deficiency type 1
  • Carnitine palmitoyltransferase deficiency type IA
  • Carnitine palmitoyltransferase IA deficiency (liver)
  • Carnitine palmitoyltransferase type I
  • Carnitine palmitoyltransferase type I deficiency
  • Carnitine palmitoyltransferase, type I
  • CPT1 deficiency

Condition Type

Birth Prevalence

  • Less than 50 babies have been diagnosed with this condition. It is a very rare condition.
  • This condition is more common in Hutterite and Inuit babies.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

High free carnitine levels compared to the levels of C16:0 and C18 acylcarnitines

What is Carnitine palmitoyltransferase I deficiency

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

“Carnitine palmitoyltransferase 1A” (CPT 1A) 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 produces.

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 can build up, including toxins. These toxins can damage your liver, heart, and brain. 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

Children who receive early and ongoing treatment for CPT I deficiency can have healthy growth and development.

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