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Genetic and Rare Diseases Information Center (GARD)

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Carnitine palmitoyltransferase 2 deficiency


Other Names for this Disease
  • Carnitine palmitoyltransferase deficiency type 2
  • Carnitine palmitoyltransferase II (CPT II) deficiency
  • CPT2
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Overview


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

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.
Your Questions Answered
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Basic Information

  • 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

  • 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 palmitoyltransferase 2 deficiency. Click on the link to view a sample search on this topic.