CPT1a: Carnitine Palmitoyltransferase 1 Deficiency

Carnitine palmitoyltransferase 1 deficiency is a type of genetic condition where an enzyme needed to move long-chain fats into the mitochondria to be broken down for energy does not function properly. This prevents the body from creating needed energy during times of stress, illness, fasting, and exercise, which can lead to medical symptoms. The body usually gets its energy by breaking down, or burning, fats and sugars. People with FAODs cannot properly break down certain types of fats.

CPT1a

CPT1a deficiency

CPT1A

• Autosomal recessive

People usually have two copies of the CPT1A gene, one inherited from each parent. CPT1a deficiency occurs when there are changes in both copies of the CPT1A gene (autosomal recessive inheritance). Someone who has a change in only one copy of the CPT1A gene is called a carrier, and they usually do not have any medical symptoms. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that their child will have CPT1a deficiency.

The severe form of CPT1a deficiency is very rare with less than 60 cases identified worldwide. There is also a mild form of CPT1a deficiency frequently found in the Inupiaq, Yu’pik, and the Inuit populations in Alaska and Canada, as well as in Hutterite populations.

Both Male and Female

CPT1a deficiency can cause a range of signs and symptoms. Whether your child was diagnosed via newborn screening may also affect when, if, and how these symptoms present. Always check with your doctor if your child is doing something out of “their” normal, as every child may present with symptoms a little differently.

Signs and symptoms may include:

• Life-threatening low blood sugar with lack of ketones (hypoketotic hypoglycemia)
• Coma and seizures from hypoglycemia and hypoketosis
• Poor liver function
• Enlarged liver (hepatomegaly)
• Liver failure
• Organ failure

Most cases of CPT1a deficiency are identified by routine newborn screening. If newborn screening is suggestive of CPT1a deficiency, additional tests may be performed including

• Measuring biochemical markers in the blood or urine
• Performing a genetic test to look for changes in the CPT1A gene

In some cases a diagnosis of CPT1a deficiency can be made before birth. If there is a family history of CPT1a deficiency, or if parents are known carriers, testing can be performed.

Some pregnant mothers will experience a life-threatening syndrome called HELLP syndrome during pregnancy. This may include high blood pressure, abnormal liver functions, and decreased blood clotting.

Yes

Treatment and management of CPT1a deficiency may include:

• Regular eating schedules to prevent low blood sugar (hypoglycemia)
• Continuous feeding directly into the stomach in extreme cases
• Possible nutritional supplements like medium-chain triglycerides (e.g., MCT oil)
• Intravenous (IV) sugar-containing fluids called D10 to treat a metabolic crisis

Parents should call their healthcare provider immediately if babies show symptoms like excessive sleepiness, vomiting, diarrhea, a fever, poor appetite, or an infection. Medical treatment should be sought immediately if there is loss of consciousness or severe confusion (decompensation), as these are signs of dangerously low blood sugar.

Patients should discuss the appropriate preparation for anesthesia with their metabolic team.

• About the Disease: Carnitine-acylcarnitine translocase deficiency – The  National Institutes of Health
• CPT1a Deficiency | Fatty Acid Oxidation Disorders Diagnosis – The INFORM Network
• Carnitine Palmitoyltransferase 1A Deficiency – National Organization for Rare Disorders (NORD)

Connecting with others impacted by a rare disease allows for vital information to be shared about day-to-day life, prevents isolation, and gives hope. Please contact MitoAction for peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Other resources we recommend are:

• New Patient Kit for Mitochondrial Conditions
• Planning and Preparation
• Monthly Expert Series
• Energy in Action Podcast