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Carnitine Palmitoyl Transferase 2 Deficiency and Carnitine Acylcarnitine Translocase Deficiency

Carnitine Palmitoyl Transferase 2 Deficiency and Carnitine Acylcarnitine Translocase Deficiency

Carnitine Palmitoyl Transferase 2 Deficiency (CPT 2) and Carnitine Acylcarnitine Translocase Deficiency (CACT) Family Fact Sheet

Date added to Michigan Newborn Screening: April 2005

What is a positive newborn screen?

Newborn screening is done on tiny samples of blood taken from your baby’s heel 24 to 36 hours after birth. The blood is tested for rare, hidden disorders that may affect your baby’s health and development. The newborn screen suggests your baby might have a disorder called carnitine palmitoyl transferase 2 deficiency (CPT 2). There is another disorder that can cause a similar positive result on newborn screening. This disorder is very rare and is called carnitine acylcarnitine translocase deficiency (CACT).

A positive newborn screen does not mean your baby has CPT 2 or CACT, but it does mean your baby needs more testing to know for sure.

You will be notified by your primary care provider or the newborn screening program to arrange for additional testing.

What are CPT 2 and CACT?

CPT 2 and CACT affect an enzyme needed to break down fats in the food we eat, so they can be used for energy and growth. In CPT 2 and CACT, the enzyme used to break down fats is missing or not working properly.

A person with CPT 2 or CACT doesn’t have enough enzyme to break down fat into energy. Using stored fat for energy is especially important in between meals when the body is not getting new energy from eating food.

CPT 2 and CACT are genetic disorders that are passed on (inherited) from parents to a child. The mother and father of an affected child carry a gene change that can cause CPT 2 or CACT. Parents usually do not have signs or symptoms, or even know they carry the gene change.

What problems can CPT 2 and CACT cause?

CPT 2 and CACT are different for each child. Some children with CPT 2 or CACT have few health problems, while other children may have a more severe form of CPT 2 or CACT with serious complications.

If CPT 2 and CACT are not treated, a child might develop:

  • Low blood sugar.
  • Breathing problems.
  • Liver problems.
  • Heart problems.
  • Seizures. 
  • Muscle pain and weakness.

It is very important to follow the doctor’s instructions for testing and treatment.

What is the treatment for CPT 2 and CACT?

CPT 2 and CACT can be treated. Treatment is life-long and can include:

  • Frequent meals/snacks and a low fat/high carbohydrate diet – a dietitian will help you learn what foods can be eaten.
  • Medications to help the body make energy.
  • Special approaches to routine illnesses.

Children with CPT 2 and CACT should see their regular doctor, a doctor who specializes in CPT 2 and CACT, and a dietitian.

Prompt and careful treatment helps children with CPT 2 and CACT live the healthiest lives possible.

 

Return to Newborn Screening List of Disorders

Michigan Resources and Support

Michigan Newborn Screening Nurse
Consultant
Toll-free: 1-866-673-9939
Email: NewbornScreening@Michigan.gov

Michigan Metabolic Coordinating Center
C.S. Mott Children’s Hospital, Michigan
Medicine: 1-734-764-0579

Children’s Special Health Care Services
Toll-free: 1-800-359-3722

 

Download a printable version of the CPT 2 and CACT fact sheet here.