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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Carnitine palmitoyltransferase deficiency type 2
  • CPT2
  • Carnitine palmitoyltransferase II (CPT II) deficiency
Home > Rare Diseases and Related Terms > Carnitine palmitoyltransferase 2 deficiency



Carnitine palmitoyltransferase 2 deficiency
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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]  


References
  1. Carnitine palmitoyltransferase II deficiency. Genetics Home Reference (GHR). November 2010 Available at: http://www.ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency. Accessed May 29, 2012.
  2. Wieser T. Carnitine Palmitoyltransferase II Deficiency. GeneReviews. October 2011 Available at: http://www.ncbi.nlm.nih.gov/books/NBK1253/. Accessed May 29, 2012.
  3. Bennett M, Stanley C. Carnitine palmitoyl transferase II deficiency. Orphanet. April2010 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=157. Accessed May 29, 2012.
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More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 General | Management Guidelines | Newborn Screening
More Detailed Information (Found 12 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

  • General

    • Genetics Home Reference (GHR) contains information on Carnitine palmitoyltransferase 2 deficiency. Click on the link to go to GHR and review the information.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Carnitine palmitoyltransferase 2 deficiency. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • 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.
    • 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. To view this fact sheet, click on the link.
  • Management Guidelines

    • 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. Click on the link to view the article on this topic.
  • Newborn Screening

    • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
    • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
    • 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.
    • Simone Albers, et al.  Detection of Neonatal Carnitine Palmitoyltransferase II Deficiency by Expanded Newborn Screening With Tandem Mass Spectrometry.  Pediatrics, Jun 2001;107:e103.
    • 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.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 Healthcare Professional Online Directory | Testing | Parent Resources
Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Healthcare Professional Online Directory

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 5 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
    • Research Challenges in CNS Manifestations of Inborn Errors of Metabolism Workshop, December 7, 2009 - December 9, 2009
      Location: Bethesda North Marriott, Bethesda, Maryland
      Description: Jointly sponsored by the National Institute of Health's Office Rare Diseases Research, the National Institute of Neurological Disorders and Stroke, and the Food and Drug Administration's Center for Drug Evaluation and Research, Division of Gastroenterology Products, the goal of this workshop is to bring together those involved in research and investigational treatments for central nervous system aspects of inborn errors of metabolism, and to discuss ways to translate these therapies to clinical trials and beyond.
    • Society for Inherited Metabolic Disorders Annual Meeting, August 29, 2009 - September 2, 2009
      Location: Manchester Grand Hyatt, San Diego, CA
      Description: The rarity, uniqueness, variability, and the need for an individual approach to treatment make inborn errors of metabolism a very complicated subspecialty. As such, most geneticists do not know these disorders well and only very specialized metabolic centers deal with them. For the United States to remain preeminent in both clinical and research aspects of inborn errors of metabolism, it is critical that young physicians and scientists be attracted to and remain in this important field.
    • United Mitochondrial Disease Foundation Annual Symposium , June 24, 2009 - June 27, 2009
      Description: The objectives of this symposium were to (1) describe the latest findings regarding mitochondrial diseases; (2) share research findings and award new research grants; (3) explore the clinical manifestations of mitochondrial disorders, including diagnosis and treatment considerations, and understand the concepts of mitochondrial disease therapy; and (4) evaluate the links between mitochondrial disease and a host of more well-known diseases.
 
Clinical Trials & Research (Found 4 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • ClinicalTrials.gov lists trials that are studying or have studied Carnitine palmitoyltransferase 2 deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • 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 Studies of Children with Metabolic or Other Genetic Disorders which may be of interest to you. To find this trial, click on the link above.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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