Very long-chain acyl-coenzyme A dehydrogenase deficiency 2573653 207594727 2008-04-23T13:01:21Z Arcadian 104523 clean up - nav, Replaced: {{metabolic pathology}} → {{Lipidemias}} using [[Project:AutoWikiBrowser|AWB]] {{unreferenced|date=January 2008}} {{DiseaseDisorder infobox | Name = Very long-chain acyl-coenzyme A dehydrogenase deficiency | ICD10 = | ICD9 = {{ICD9|277.85}} | ICDO = | Image = | Caption = | OMIM = 201475 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | DiseasesDB = | }} '''Very long-chain acyl-coenzyme A dehydrogenase deficiency''' is a [[fatty acid oxidation disorder]] which prevents the body from converting certain fats to energy, particularly during periods without food. Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids. ==Diagnosis== Typically, initial signs and symptoms of this disorder occur during infancy and include low blood sugar ([[hypoglycemia]]), lack of energy ([[lethargy]]), and [[muscle]] weakness. There is also a high risk of complications such as [[liver]] abnormalities and life-threatening [[heart]] problems. Symptoms that begin later in childhood, adolescence, or adulthood tend to be milder and usually do not involve heart problems. Episodes of very long-chain acyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting, illness, and exercise. ==Genetics== [[Image:autorecessive.jpg|thumb|right|{{PAGENAME}} has an [[autosomal recessive]] pattern of inheritance.]] Mutations in the ''[[ACADVL]]'' [[gene]] lead to inadequate levels of an enzyme called very long-chain acyl-coenzyme A (CoA) dehydrogenase. Without this enzyme, very long-chain fatty acids from food and fats stored in the body cannot be degraded and processed. As a result, these fatty acids are not converted into energy, which can lead to characteristic signs and symptoms of this disorder, such as lethargy and hypoglycemia. Levels of very long-chain fatty acids or partially degraded fatty acids may build up in tissues and can damage the heart, liver, and muscles, causing more serious complications. ==External links== * {{NLM|verylongchainacylcoenzymeadehydrogenasedeficiency}} {{Lipidemias}} [[Category:Genetic disorders]] [[Category:Autosomal recessive disorders]] [[Category:Inborn errors of metabolism]]