Carnitine-acylcarnitine translocase deficiency
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Carnitine-acylcarnitine translocase 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 used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids.[1] Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children.[2]
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- More Detailed Information (Found: 8 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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Genetics Home Reference (GHR) contains a condition summary on Carnitine-acylcarnitine translocase deficiency. Click on the link to go to GHR and review this summary.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Carnitine-acylcarnitine translocase deficiency. Click on the link to go to OMIM and review these resources.
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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.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Carnitine-acylcarnitine translocase deficiency. Click on the link to view a sample search on this topic.
- Newborn Screening
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The U.S. National Newborn Screening Status Report lists the status of newborn screening state by state and is available on the National Newborn Screening and Genetic Resource Center (NNSGRC) Web site. The 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. Click on the link above to view the report.
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The Screening, Technology, and Research in Genetics (STAR-G) Project was a multi-state collaborative effort to obtain research data, identify strategies, and develop written materials for addressing the financial, ethical, legal and social issues surrounding the use of tandem mass spectrometry for newborn screening. As part of the STAR-G Project, fact sheets on newborn screening disorders have been developed for parents. To view the fact sheet on carnitine acylcarnitine translocase deficiency (CAT), visit the STAR-G link.
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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.
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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.
- Support Groups (Found: 7 Resources)
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Services (Found: 2 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
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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.
- Genetic Services
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We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
- NLM Gateway
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.