2-Methylbutyrylglycinuria

Common Name(s)

2-Methylbutyrylglycinuria, 2-Methylbutyryl-CoA Dehydrogenase Deficiency, 2MBG, 2-MBCD deficiency, 2-MBAD deficiency

2-Methylbutyrylglycinuria (2MBG) is a rare genetic condition resulting from a mutation (error) in a person’s DNA. 2MBG is an organic acid condition because it leads to a buildup of harmful amounts of organic acids in the body. Protein in the food we eat is broken down into amino acids or “building blocks”. We typically eat more protein than needed; therefore we often have more amino acids than we need. Enzymes (special proteins) breakdown the extra amino acids into organic acids and ammonia and then harmless products our body can get rid of. If one of the enzymes needed is missing or not working correctly, the amino acid is not broken all the way down and instead builds up in our system as organic acids. Although organic acids are only mild acids, both organic acids and ammonia can damage our bodies if too much builds up. In this case the enzyme, 2-methylbutyryl-CoA dehydrogenase, is unable to break down the amino acid, isoleucine.

2MBG is caused by mutations in the ACADSB gene and is an autosomal recessive condition. Signs of 2MBG usually begin to show during infancy, sometimes as early as a few days after birth. They may include poor appetite, sleeping longer or more often, tiredness, irritability, fever, vomiting, weak muscle tone, delayed growth, tight muscles, or developmental delays. These signs may appear when a child eats certain food. Illnesses, infections, or long periods of not eating may trigger symptoms. Treatment includes supplements and a specific diet. Many babies are screened at birth so treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor about the most current treatments. Support groups also are a good source of information. A genetic counselor will help you understand the genetics.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "2-Methylbutyrylglycinuria" for support, advocacy or research.

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 28 Jul 2015

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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 Jun 2015

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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.

Logo
CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 28 Jul 2015

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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 Jun 2015

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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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.