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Carnitine-acylcarnitine translocase deficiency
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 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.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.
Last updated: 7/26/2013
- Carnitine-acylcarnitine translocase deficiency. Genetics Home Reference. August 2006; http://ghr.nlm.nih.gov/condition=carnitineacylcarnitinetranslocasedeficiency. Accessed 4/4/2008.
- Carnitine-acylcarnitine translocase deficiency. Screening, Technology and Research in Genetics. October 5, 2007; http://www.newbornscreening.info/Parents/fattyaciddisorders/CAT.html. Accessed 4/4/2008.
- Genetics Home Reference (GHR) contains information on Carnitine-acylcarnitine translocase 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
- The Online Mendelian Inheritance in Man (OMIM) is an 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-acylcarnitine translocase deficiency. Click on the link to view a sample search on this topic.