General Condition Information
- Carnitine palmitoyl transferase deficiency type 1
- Carnitine palmitoyl transferase deficiency type I
- Carnitine palmitoyl transferase deficiency, type 1A
- Carnitine palmitoyl transferase deficiency, type I
- Carnitine palmitoyl transferase I deficiency
- Carnitine palmitoyl transferase type I deficiency
- Carnitine palmitoyltransferase 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
- CPT1A Arctic Variant
- It is unknown how many babies are born with this rare condition each year in the United States.
- A specific variant within the gene causing CPT1A is found commonly in Alaska Native infants. This variant, known as the CPT1A Arctic Variant, is found in over 1 in 4 Alaska Native infants.
- Visit GeneReviews to learn more about how often this condition occurs.
What is Carnitine palmitoyltransferase I deficiency
“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
Newborn screening for CPT I deficiency is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
During screening, a special machine measures how much of certain substances (called carnitine and acylcarnitines) are in your baby’s blood. The body produces these substances when it makes energy from fats. Babies with high levels of free carnitine might have CPT I deficiency.
If your baby’s blood spot screening result for CPT I deficiency is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result does not mean that your baby definitely has the condition. It does mean that your baby needs more follow-up testing. To learn more about screening results, visit the Blood Spot Screening Results page.
Your baby may need the following tests after an out-of-range screening result:
- Blood and/or urine tests
- Genetic testing using a blood sample
You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems early in childhood if they are not diagnosed and treated quickly.
False-positive newborn screening results for this condition can happen. Some situations can affect screening results for CPT I deficiency:
- Screening samples were collected too early (before the baby is 24 hours old)
- Babies who were given carnitine may have false positive results for this condition.
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Signs of CPT I deficiency often appear in early childhood (8 months to 18 months of age). They can be triggered by common illnesses (like a cold or flu) or a long time without food.
Signs of the condition may include the following:
The condition is caused by a change in the CPT1A gene. This gene gives your body instructions for making “carnitine palmitoyltransferase 1A” (CPT 1A). CPT 1A is an enzyme that helps in breaking down a certain type of fat, called “long-chain fatty acids.” Long-chain fatty acids are important sources of energy.
When a change in the CPT1A gene causes the enzyme not to work properly, your baby cannot make enough working CPT 1A enzyme. As a result, their body cannot properly break down fats to make energy and get rid of toxins.
- CPT I deficiency is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking CPT1A gene to their baby. Only babies with two nonworking CPT1A genes—one from the mom and one from the dad—have this condition.
- People with one working copy and one nonworking copy of the CPT1A gene are called carriers.
- Carriers do not have or develop the condition. However, they may pass down a nonworking copy of the gene to their children.
- If two parents are carriers of a nonworking copy of the CPT1A gene, they have a 1 in 4 chance of having a child with CPT I deficiency
- Carriers for CPT I deficiency often do not know they are carriers before having a child with the condition. In most cases, families have no history of the condition until the birth of a child with CPT I deficiency.
- Parents who already have a child with CPT I deficiency still have a 1 in 4 chance of having another child with CPT I deficiency. This 1 in 4 chance stays the same for all future children.
- Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
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.