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Carnitine palmitoyltransferase 2 deficiency


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Other Names:
Carnitine palmitoyltransferase deficiency type 2; CPT2; Carnitine palmitoyltransferase II (CPT II) deficiency
Categories:
Newborn Screening

Summary Summary


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Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.[1] The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. The myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue).[2] Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern.[1] Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.[3]  
Last updated: 5/29/2012

Symptoms Symptoms


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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.

Showing of 39 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Muscle weakness
Muscular weakness
0001324
Reduced carnitine O-palmitoyltransferase level 0012380
30%-79% of people have these symptoms
Decreased plasma free carnitine 0008315
Decreased plasma total carnitine 0011936
Elevated plasma acylcarnitine levels 0045045
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
Exercise intolerance
Decreased ability to exercise
Inability to exercise
[ more ]
0003546
Exercise-induced myalgia
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced
[ more ]
0003738
Hyperlipidemia
Elevated lipids in blood
0003077
Myoglobinuria 0002913
Myopathy
Muscle tissue disease
0003198
Red-brown urine 0040320
5%-29% of people have these symptoms
Cold-induced muscle cramps 0003449
Episodic abdominal pain 0002574
Exercise-induced muscle cramps
Exercise-induced muscle cramping
Muscle cramps following exercise
Muscle cramps on exercise
Muscle cramps on exertion
Muscle cramps with exertion
[ more ]
0003710
Headache
Headaches
0002315
Hepatomegaly
Enlarged liver
0002240
Intermittent painful muscle spasms 0011964
Renal tubular epithelial necrosis 0008682
Rhabdomyolysis
Breakdown of skeletal muscle
0003201
Seizure 0001250
Stage 5 chronic kidney disease 0003774
Tubulointerstitial nephritis 0001970
1%-4% of people have these symptoms
Abnormality of the basal ganglia 0002134
Agenesis of corpus callosum 0001274
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
0011675
Cardiomyopathy
Disease of the heart muscle
0001638
Cerebellar vermis hypoplasia 0001320
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Coma 0001259
Cystic renal dysplasia 0000800
Hepatic calcification 0006559
Hepatic failure
Liver failure
0001399
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoketotic hypoglycemia 0001985
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ]
0002643
Pachygyria
Fewer and broader ridges in brain
0001302
Polycystic kidney dysplasia 0000113
Polymicrogyria
More grooves in brain
0002126
Showing of 39 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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 created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.
  • 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.
  • Simone Albers, et al.  Detection of Neonatal Carnitine Palmitoyltransferase II Deficiency by Expanded Newborn Screening With Tandem Mass Spectrometry.  Pediatrics, Jun 2001;107:e103.

Treatment Treatment


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The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

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.  

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
  • American Dietetic Association
    120 South Riverside Plaza, Suite 2000
    Chicago, IL 60606-6995
    Toll-free: 800-366-1655
    E-mail: knowledge@eatright.org
    Website: http://www.eatright.org/Public/

Related Diseases Related Diseases


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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
The differential diagnosis for the myopathic form should include McArdle disease, Duchenne muscular dystrophy, and cytochrome c oxidase deficiency (see these terms) among others, and carnitine-acylcarnitine translocase deficiency (CACT) and very-long-chain acyl-CoA dehydrogenase deficiency (see these terms) for the infantile and neonatal forms
Visit the Orphanet disease page for more information.

Research Research


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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

  • 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.
  • ClinicalTrials.gov lists trials that are related to Carnitine palmitoyltransferase 2 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.

Organizations Organizations


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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

  • FOD (Fatty Oxidation Disorder) Family Support Group
    P.O. Box 54
    Okemos, MI 48805-0054
    Telephone: +1-517-381-1940 [8am - 8pm EST every day]
    Fax: +1-866-290-5206
    E-mail: deb@fodsupport.org
    Website: https://fodsupport.org/
  • Metabolic Support UK
    5 Hilliards Court
    Sandpiper Way
    Chester Business Park
    Chester, CH4 9QP United Kingdom
    Toll-free: 0800 652 3181
    Telephone: 0845 241 2173
    E-mail: https://www.metabolicsupportuk.org/contact-us
    Website: https://www.metabolicsupportuk.org
  • MitoAction
    PO Box 51474
    Boston, MA 02205
    Toll-free: 1-888-648-6228
    Telephone: 1-888-MITO-411 (648-6411) for support line
    E-mail: info@mitoaction.org
    Website: https://www.mitoaction.org/
  • United Mitochondrial Disease Foundation
    8085 Saltsburg Road, Suite 201
    Pittsburgh, PA 15239
    Toll-free: 1-888-317-8633
    Telephone: +1-412-793-8077
    Fax: +1-412-793-6477
    E-mail: info@umdf.org
    Website: https://www.umdf.org
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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 palmitoyltransferase 2 deficiency. This website is maintained by the National Library of Medicine.
  • 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 palmitoyltransferase 2 deficiency. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.

References References


  1. Carnitine palmitoyltransferase II deficiency. Genetics Home Reference (GHR). November 2010; http://www.ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency. Accessed 5/29/2012.
  2. Wieser T. Carnitine Palmitoyltransferase II Deficiency. GeneReviews. October 2011; http://www.ncbi.nlm.nih.gov/books/NBK1253/. Accessed 5/29/2012.
  3. Bennett M, Stanley C. Carnitine palmitoyl transferase II deficiency. Orphanet. April2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=157. Accessed 5/29/2012.
Do you know of a review article? We want to hear from you.
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rare disease research!
You can help advance rare disease research!
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