Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: Difference between revisions

Jump to navigation Jump to search
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.


==See also==
==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

WikiDoc Resources for Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Articles

Most recent articles on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Most cited articles on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Review articles on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Articles on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Images of Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Photos of Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Podcasts & MP3s on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Videos on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Evidence Based Medicine

Cochrane Collaboration on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Bandolier on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

TRIP on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Clinical Trials

Ongoing Trials on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency at Clinical Trials.gov

Trial results on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Clinical Trials on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

NICE Guidance on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

NHS PRODIGY Guidance

FDA on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

CDC on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Books

Books on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

News

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in the news

Be alerted to news on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

News trends on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Commentary

Blogs on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Definitions

Definitions of Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Patient Resources / Community

Patient resources on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Discussion groups on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Patient Handouts on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Directions to Hospitals Treating Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Risk calculators and risk factors for Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Healthcare Provider Resources

Symptoms of Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Causes & Risk Factors for Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Diagnostic studies for Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Treatment of Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Continuing Medical Education (CME)

CME Programs on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

International

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency en Espanol

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency en Francais

Business

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in the Marketplace

Patents on Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Experimental / Informatics

List of terms related to Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

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.

Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of LCHAD deficiency

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

Template:WH Template:WS