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CPT1A gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CPT1A gene

The CPT1A gene provides instructions for an enzyme critical to fatty acid metabolism, and variants in this gene can lead to metabolic disorders and pregnancy-related liver complications.

Overview

The CPT1A gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver. This enzyme is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. During periods of fasting, long-chain fatty acids are an important energy source for the liver and other tissues.

Within liver cells, fatty acid oxidation takes place within mitochondria, which are the energy-producing centers. Before entering mitochondria, a group of fats called long-chain fatty acids must first be attached to a substance known as carnitine. Carnitine palmitoyltransferase 1A connects carnitine to long-chain fatty acids so they can cross the inner membrane of mitochondria. Inside mitochondria, carnitine is removed from the fatty acids, and they can be metabolized to produce energy.

Health Conditions Related to Genetic Changes

Carnitine palmitoyltransferase I deficiency

Variants in the CPT1A gene have been found to cause carnitine palmitoyltransferase I (CPT I) deficiency, a condition that prevents the body from using certain fats for energy. This condition can cause serious health problems, particularly during periods of fasting.

  • Most CPT1A gene variants lead to changes in single amino acids, which severely reduce or eliminate the activity of the enzyme.
  • Without enough enzyme activity, fatty acids cannot enter mitochondria to be broken down.
  • Reduced energy production can lead to low levels of glucose in the blood (hypoglycemia) and low levels of the products of fat breakdown (hypoketosis).
  • Fatty acids may build up in cells and damage the liver, heart, and brain.

Other disorders

CPT1A gene variants appear to increase the risk of a serious liver disorder that can develop in women during pregnancy called acute fatty liver of pregnancy (AFLP). This disorder begins with abdominal pain and can rapidly progress to liver failure. Signs of AFLP include an abnormal accumulation of fat in the liver, hypoglycemia, increased levels of ammonia in the blood (hyperammonemia), and abnormalities in liver enzymes.

Other Names for This Gene

  • carnitine palmitoyltransferase 1A (liver)
  • carnitine palmitoyltransferase I, liver
  • CPT1
  • CPT1-L
  • CPT1A_HUMAN
  • L-CPT1

Genomic Location

The CPT1A gene is found on chromosome 11.

Frequently Asked Questions

Key signs include unexplained low blood sugar (hypoglycemia), low ketone levels (hypoketosis), lethargy, vomiting, or seizures after fasting or illness. In infants, poor feeding, failure to thrive, or episodes of hypoglycemia during the first months of life are red flags that warrant evaluation for CPT1A deficiency.
Pregnancy increases metabolic demands and can precipitate hypoglycemia or fatty acid oxidation stress. Women with CPT1A deficiency should work with a maternal–fetal medicine specialist to monitor glucose and ketone levels, maintain adequate caloric intake, and avoid prolonged fasting. During labor, continuous glucose monitoring and ready access to intravenous dextrose can prevent metabolic decompensation.
Ensure regular meals and snacks every 3–4 hours, especially during illness or when the child is not eating normally. Include complex carbohydrates and protein in each meal, and consider a small bedtime snack if the child is prone to nighttime hypoglycemia. If fasting is unavoidable (e.g., during a medical procedure), discuss a glucose infusion or dextrose gel with your pediatrician.
Many newborn screening programs use tandem mass spectrometry to detect elevated C16:0 carnitine or abnormal acylcarnitine profiles. A positive screen prompts confirmatory testing, such as plasma acylcarnitine analysis and genetic sequencing of CPT1A. A pathogenic variant confirms the diagnosis; a variant of uncertain significance may require further functional studies or family segregation analysis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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