Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: Difference between revisions
m Robot: Automated text replacement (-{{SIB}} + & -{{EH}} + & -{{EJ}} + & -{{Editor Help}} + & -{{Editor Join}} +) |
No edit summary |
||
| Line 1: | Line 1: | ||
__NOTOC__ | |||
{{DiseaseDisorder infobox | | {{DiseaseDisorder infobox | | ||
Name = Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | | Name = Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | | ||
| Line 13: | Line 14: | ||
}} | }} | ||
{{SI}} | {{SI}} | ||
{{CMG}} | |||
==Overview== | |||
'''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. | '''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. | ||
| Line 22: | Line 24: | ||
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. | 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. | ||
== | ==Related Chapters== | ||
*[[Medium chain acyl dehydrogenase deficiency]] | *[[Medium chain acyl dehydrogenase deficiency]] | ||
| Line 28: | Line 30: | ||
* {{NLM|longchain3hydroxyacylcoenzymeadehydrogenasedeficiency}} | * {{NLM|longchain3hydroxyacylcoenzymeadehydrogenasedeficiency}} | ||
* [http://www.newbornscreening.info/Parents/fattyaciddisorders/LCHADD.html Newbornscreening.info] | * [http://www.newbornscreening.info/Parents/fattyaciddisorders/LCHADD.html Newbornscreening.info] | ||
[[Category:Inborn errors of metabolism]] | [[Category:Inborn errors of metabolism]] | ||
Latest revision as of 19:02, 14 October 2012
Template:DiseaseDisorder infobox
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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 fats to energy, particularly during periods of fasting. This condition is inherited in an autosomal recessive pattern.
Mutations 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 acids from food and body fat cannot be 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 viral infections.
Related Chapters
External links
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency at NLM Genetics Home Reference
- Newbornscreening.info