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Carnitine Palmitoyl Transferase 1 Deficiency
Carnitine Palmitoyl Transferase 1 Deficiency (CPT 1) 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 1 deficiency (CPT 1).
A positive newborn screen does not mean your baby has CPT 1, 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 is CPT 1?
CPT 1 affects an enzyme needed to break down fats in the food we eat, so they can be used for energy and growth. In CPT 1, the enzyme used to break down fats is missing or not working properly.
A person with CPT 1 doesn’t have enough enzyme to break down fats 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 1 is a genetic disorder that is passed on (inherited) from parents to a child. The mother and father of an affected child carry a gene change that can cause CPT 1. Parents usually do not have signs or symptoms, or even know they carry the gene change.
What problems can CPT 1 cause?
CPT 1 is different for each child. Some children with CPT 1 have few health problems, while other children may have a more severe form of CPT 1 with serious complications.
If CPT 1 is not treated, a child might develop:
- Low blood sugar.
- Seizures.
- Enlarged liver.
- Muscle weakness.
- Vomiting.
- Poor feeding.
It is very important to follow the doctor’s instructions for testing and treatment.
What is the treatment for CPT 1?
CPT 1 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.
- Special approaches to routine illnesses.
Children with CPT 1 should see their regular doctor, a doctor who specializes in CPT 1, and a dietitian.
Prompt and careful treatment helps children with CPT 1 live the healthiest lives possible.
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