National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Carnitine palmitoyl transferase 1A deficiency


Other Names:
Carnitine palmitoyltransferase 1A deficiency; CPT1A deficiency; Hepatic CPT1; Carnitine palmitoyltransferase 1A deficiency; CPT1A deficiency; Hepatic CPT1; Hepatic carnitine palmitoyltransferase 1 deficiency; L-CPT 1 deficiency; Carnitine palmitoyl transferase IA deficiency; Hepatic carnitine palmitoyl transferase 1 deficiency; Hepatic carnitine palmitoyl transferase I deficiency; L-CPT1 deficiency; L-CPTI deficiency See More
Categories:
Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) is an inherited metabolic condition that prevents the body from converting certain fats  (long-chain fatty acids) into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. Symptoms of this condition often appear early in life and include low blood sugar (hypoglycemia) and low levels of ketones, which are produced when the body breaks down fat for energy (hypoketotic hypoglycemia). This can lead to a greater risk for 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. CPT1A deficiency is caused by mutations in the CPT1A gene and is inherited in an autosomal recessive manner. Although there is no cure for CPT1A deficiency, symptoms can be managed using several strategies, such dietary changes and use of fat supplements.[1][2]
Last updated: 11/11/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] 		0000708
Elevated hepatic transaminase
High liver enzymes
0002910
Fatigue
Tired
Tiredness
[ more ] 		0012378
Hepatic failure
Liver failure
0001399
Hypoglycemia
Low blood sugar
0001943
Muscular hypotonia
Low or weak muscle tone
0001252
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Reduced tendon reflexes 0001315
Seizure 0001250
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
30%-79% of people have these symptoms
Coma 0001259
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hepatomegaly
Enlarged liver
0002240
Lethargy 0001254
Loss of consciousness
Passing out
0007185
Transient hyperlipidemia 0008279
5%-29% of people have these symptoms
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Renal tubular acidosis
Accumulation of acid in body due to kidney problem
0001947
Sudden cardiac death
Premature sudden cardiac death
0001645
Percent of people who have these symptoms is not available through HPO
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Autosomal recessive inheritance 0000007
Cardiomegaly
Enlarged heart
Increased heart size
[ more ] 		0001640
Diarrhea
Watery stool
0002014
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Feeding difficulties in infancy 0008872
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Hyperammonemia
High blood ammonia levels
0001987
Hypoketotic hypoglycemia 0001985
Prenatal maternal abnormality 0002686
Recurrent encephalopathy 0007335
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Newborn Screening

  • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Treatment of CPT1A deficiency usually involves the support of a metabolic specialist and a dietician familiar with CPT1A deficiency. Treatment may differ depending on severity of symptoms and may be lifelong if necessary. Treatment may include:[3][2]
  • Avoidance prolonged fasting/going a long time without food
  • Incorporation of a low-fat, high carbohydrate diet 
  • Use of medium Chain Triglyceride oil (special type of oil made up of medium chain triglycerides - a type of fatty acid)
Children with CPT1A deficiency may require additional care during illness to avoid a metabolic crises. Call your healthcare provider should symptoms of an illness occur such as poor appetite, low energy or excessive sleepiness, vomiting, diarrhea, or fever.[2]
Last updated: 11/11/2016

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes fatty acid and ketogenesis disorders such as medium-chain acyl-CoA dehydrogenase (MCAD deficiency; see this term), other long-chain fatty acid oxidation disorders such as carnitine palmitoyltransferase (CPT) 2 deficiency and Reye's syndrome (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Carnitine palmitoyl transferase 1A deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Pediatric Patients With Metabolic or Other Genetic Disorders which may be of interest to you.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Carnitine palmitoyl transferase 1A deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Carnitine palmitoyl transferase 1A deficiency. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Carnitine palmitoyltransferase I deficiency. Genetics Home Reference. April 2014; http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferaseideficiency. Accessed 11/11/2016.
  2. FATTY ACID OXIDATION DISORDERS. STAR-G Screening, Technology and Research in Genetics. 2/28/2016; http://www.newbornscreening.info/Parents/fattyaciddisorders/CPT1.html#3. Accessed 11/11/2016.
  3. Bennett MJ, Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. GeneReviews. March 17, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1527/. Accessed 11/11/2016.