View source for Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

{{DiseaseDisorder infobox |
  Name           = Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
  ICD10          = |
  ICD9           = {{ICD9|277.85}} |
  ICDO           = |
  Image          = |
  Caption        = |
  OMIM           = 600890 |
  MedlinePlus    = |
  eMedicineSubj  = ped |
  eMedicineTopic = 1284 |
  DiseasesDB     = |
}}
{{SI}}


'''Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency''', often shortened to '''LCHAD deficiency''' is a rare [[genetic disorder]] that prevents the body from converting certain [[lipid|fat]]s to energy, particularly during periods of [[fasting]]. This condition is inherited in an [[autosomal recessive]] pattern.
 
[[Image:LCHAD deficiency.jpg|left|thumb|200px|Schematic demonstrating [[mitochondria]]l [[fatty acid]] beta-[[oxidation]] and effects of LCHAD deficiency]]
[[Mutation]]s in the ''[[HADHA]]'' gene lead to inadequate levels of an enzyme called long-chain 3-hydroxyacyl-coenzyme A ([[CoA]]) dehydrogenase, which is part of a protein complex known as [[mitochondrial trifunctional protein]]. Long-chain [[fatty acid]]s from food and body fat cannot be [[Fatty acid metabolism|metabolized]] and processed without sufficient levels of this [[enzyme]]. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as [[lethargy]] and [[hypoglycemia]]. Long-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the [[liver]], [[heart]], [[retina]], and muscles, causing more serious complications.

Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include feeding difficulties, [[lethargy]], hypoglycemia,[[hypotonia]], liver problems, and abnormalities in the [[retina]]. Muscle pain, a breakdown of muscle tissue, and abnormalities in the [[nervous system]] that affect arms and legs ([[peripheral neuropathy]]) may occur later in childhood. There is also a risk for complications such as life-threatening heart and breathing problems, [[coma]], and sudden unexpected death. Episodes of LCHAD deficiency can be triggered by periods of fasting or by illnesses such as [[virus|viral]] infections.

==See also==
*[[Medium chain acyl dehydrogenase deficiency]]

==External links==
* {{NLM|longchain3hydroxyacylcoenzymeadehydrogenasedeficiency}}
* [http://www.newbornscreening.info/Parents/fattyaciddisorders/LCHADD.html Newbornscreening.info]



[[Category:Inborn errors of metabolism]]
[[Category:genetic disorders]]

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