Skip Navigation
About   Site Map   Contact Us
 
A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
Carnitine palmitoyltransferase I deficiency
 
 References
 
 Quick links to this topic
 Health information
 Information pages
 For patients and families
 Clinical summary
 DNA test labs
 Newborn screening
 Recent literature
 Medical and science texts
 Genetic disorder catalog

Carnitine palmitoyltransferase I deficiency

Reviewed August 2006

What is carnitine palmitoyltransferase I deficiency?

Carnitine palmitoyltransferase I deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. People with this disorder have a faulty enzyme that disrupts carnitine's role in processing long-chain fatty acids.

One of the main signs of this disorder is a low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in a loss of consciousness or seizures. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, nervous system damage, and elevated levels of carnitine in the blood.

This condition is sometimes mistaken for Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections

How common is carnitine palmitoyltransferase I deficiency?

This condition is rare; there are fewer than 50 individuals identified with this disorder. This disorder may be more common in the Hutterite populations of the northern United States and Canada, and in the Inuit populations of northern Canada, Alaska, and Greenland.

What genes are related to carnitine palmitoyltransferase I deficiency?

Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency.

Mutations in the CPT1A gene lead to the production of a defective version of an enzyme called carnitine palmitoyltransferase I. Together with carnitine, this enzyme normally helps transport long-chain fatty acids into mitochondria, the energy-producing centers within cells. If this enzyme is defective, long-chain fatty acids from food and fats stored in the body cannot be broken down and processed. As a result, these fatty acids are not converted into energy, which can lead to characteristic signs and symptoms of this disorder, such as weakness and hypoketotic hypoglycemia. Excess long-chain fatty acids may build up in tissues, damaging the liver, heart, and brain.

Read more about the CPT1A gene.

How do people inherit carnitine palmitoyltransferase I deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about treatment for carnitine palmitoyltransferase I deficiency?

These resources address the management of carnitine palmitoyltransferase I deficiency and may include treatment providers.

You might also find information on treatment of carnitine palmitoyltransferase I deficiency in Educational resources and Patient support.

Where can I find additional information about carnitine palmitoyltransferase I deficiency?

You may find the following resources about carnitine palmitoyltransferase I deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for carnitine palmitoyltransferase I deficiency?

  • CPT deficiency, hepatic, type I
  • CPT I deficiency
  • Liver form of carnitine palmitoyltransferase deficiency

What if I still have specific questions about carnitine palmitoyltransferase I deficiency?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding carnitine palmitoyltransferase I deficiency?

acids ; autosomal ; autosomal recessive ; carnitine ; cell ; deficiency ; enzyme ; fasting ; fatty acids ; gene ; hepatic ; hypoglycemia ; infection ; ketone ; mitochondria ; mutation ; nervous system ; newborn screening ; oxidation ; population ; recessive ; screening ; seizure ; sign ; symptom ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (11 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: August 2006
Published: September 12, 2008