Carnitine palmitoyltransferase 2 deficiency
Other Names for this Disease
- Carnitine palmitoyltransferase deficiency type 2
- Carnitine palmitoyltransferase II (CPT II) deficiency
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 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). Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern. Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.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.
Last updated: 5/29/2012
- 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.
- Wieser T. Carnitine Palmitoyltransferase II Deficiency. GeneReviews. October 2011; http://www.ncbi.nlm.nih.gov/books/NBK1253/. Accessed 5/29/2012.
- 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.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.