2-Methylbutyryl-CoA Dehydrogenase Deficiency

Common Name(s)

2-Methylbutyryl-CoA Dehydrogenase Deficiency

2-methylbutyryl-CoA dehydrogenase deficiency is a metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body.  The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent.  Signs and symptoms of the disorder can begin a few days after birth or later in childhood.  The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "2-Methylbutyryl-CoA Dehydrogenase Deficiency" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Last Updated: 18 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "2-Methylbutyryl-CoA Dehydrogenase Deficiency" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

www.oaanews.org

Last Updated: 18 Mar 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "2-Methylbutyryl-CoA Dehydrogenase Deficiency" returned 1 free, full-text research articles on human participants. First 3 results:

2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.
 

Author(s): Sandra C van Calcar, Linda A Gleason, Heidi Lindh, Gary Hoffman, William Rhead, Gerard Vockley, Jon A Wolff, Maureen S Durkin

Journal: WMJ. 2007 Feb;106(1):12-5.

 

In April 2000, the Wisconsin Newborn Screening Program implemented tandem mass spectrometry (MS/MS) technology to expand the newborn screening panel from 13 to 48 disorders, the majority of which are inborn errors of metabolism. Among other tests, this technology measures the acylcarnitine ...

Last Updated: 30 Mar 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "2-Methylbutyryl-CoA Dehydrogenase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.