2-Methylbutyrylglycinuria

Common Name(s)

2-Methylbutyrylglycinuria, 2-Methylbutyryl-CoA Dehydrogenase Deficiency, 2MBG, 2-MBCD deficiency, 2-MBAD 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-Methylbutyrylglycinuria" 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-Methylbutyrylglycinuria" 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-Methylbutyrylglycinuria" returned 2 free, full-text research articles on human participants. First 3 results:

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
 

Author(s): Jaffar Alfardan, Al-Walid Mohsen, Sara Copeland, Jay Ellison, Laura Keppen-Davis, Marianne Rohrbach, Berkley R Powell, Jane Gillis, Dietrich Matern, Jeffrey Kant, Jerry Vockley

Journal: Mol. Genet. Metab.. 2010 Aug;100(4):333-8.

 

Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA dehydrogenase deficiency, is a recently described autosomal recessive disorder of isoleucine metabolism. Most patients reported thus far have originated from a founder mutation in the ...

Last Updated: 19 Jul 2010

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Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
 

Author(s): B S Andresen, E Christensen, T J Corydon, P Bross, B Pilgaard, R J Wanders, J P Ruiter, H Simonsen, V Winter, I Knudsen, L D Schroeder, N Gregersen, F Skovby

Journal: Am. J. Hum. Genet.. 2000 Nov;67(5):1095-103.

 

Acyl-CoA dehydrogenase (ACAD) defects in isoleucine and valine catabolism have been proposed in clinically diverse patients with an abnormal pattern of metabolites in their urine, but they have not been proved enzymatically or genetically, and it is unknown whether one or two ACADs ...

Last Updated: 30 Nov 2000

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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-Methylbutyrylglycinuria" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.