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]]