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Carnitine palmitoyl transferase 1 deficiency

Other Names for this Disease
  • Carnitine palmitoyltransferase 1A deficiency
  • CPT1A deficiency
  • Hepatic carnitine palmitoyltransferase 1 deficiency
  • Hepatic CPT1
  • L-CPT 1 deficiency
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Carnitine palmitoyltransferase I deficiency is a condition that prevents the body from converting certain fats called 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 include low level of keytones and low blood sugar (hypoketotic hypoglycemia), which can result in a 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. It is caused by mutations in the CPT1A gene.[1]
Last updated: 7/10/2009


  1. Carnitine palmitoyltransferase I deficiency. Genetics Home Reference. 2006; Accessed 7/10/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Carnitine palmitoyl transferase 1 deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information 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.

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 palmitoyl transferase 1 deficiency. Click on the link to view a sample search on this topic.