3-methylglutaconic aciduria

Common Name(s)

3-methylglutaconic aciduria

3-methylglutaconic aciduria (3MGA) is a group of 5 genetic disorders that result in the inability of the body to get energy from proteins in the body. Proteins are made of building blocks called amino acids. Under normal conditions, both proteins and amino acids can be used for energy to support muscles and growth. Symptoms of 3MGA vary depending on the specific disorder but can include delayed growth, muscle weakness (hypotonia), and muscle spasms. These symptoms are present at birth.

3MGA disorders are caused by a mutation (change) to a variety of genes. All of these mutations cause different proteins to be missing which are necessary to break down other proteins or amino acids. The missing proteins are normally present in the mitochondria, the part of the cell that is responsible for producing energy. 3MGA is therefore a type of mitochondrial disease. 3MGA also causes harmful organic acids to build up in the body, making it an organic acid condition as well. All 3MGA disorders are inherited, but the method of inheritance varies by type. More information about each variation can be found on Disease InfoSearch by searching the specific name of that variation.

In order to diagnose 3MGA, a medical professional will often test a blood or urine sample for a high level of organic acids. The doctor will then likely order genetic testing to confirm the diagnosis. Treatment options depend on the presented symptoms and therefore vary by type of 3MGA. Many babies are screened for 3MGA disorders at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test. Talk with your baby’s doctor to determine the most current treatment options. Genetic counselors and support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "3-methylglutaconic aciduria" for support, advocacy or research.

Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

Last Updated: 29 May 2015

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Children's Cardiomyopathy Foundation

Our mission is to accelerate the search for a cure by stimulating and supporting promising research on pediatric cardiomyopathy, by educating and assisting physicians and patients on the complexities of the disease, and by increasing awareness and advocacy on behalf of affected children and their families.

Last Updated: 20 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 "3-methylglutaconic aciduria" for support, advocacy or research.

Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

https://www.barthsyndrome.org

Last Updated: 29 May 2015

View Details
Children's Cardiomyopathy Foundation

Our mission is to accelerate the search for a cure by stimulating and supporting promising research on pediatric cardiomyopathy, by educating and assisting physicians and patients on the complexities of the disease, and by increasing awareness and advocacy on behalf of affected children and their families.

http://www.childrenscardiomyopathy.org

Last Updated: 20 Jul 2015

View Details
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

View Details

 

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 "3-methylglutaconic aciduria" returned 8 free, full-text research articles on human participants. First 3 results:

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
 

Author(s): Marjan Huizing, Heidi Dorward, Lien Ly, Enriko Klootwijk, Robert Kleta, Flemming Skovby, Wuhong Pei, Benjamin Feldman, William A Gahl, Yair Anikster

Journal: Mol. Genet. Metab.. 2010 Jun;100(2):149-54.

 

3-Methylglutaconic aciduria type III (3-MGCA type III), caused by recessive mutations in the 2-exon gene OPA3, is characterized by early-onset bilateral optic atrophy, later-onset extrapyramidal dysfunction, and increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric ...

Last Updated: 17 May 2010

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Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
 

Author(s): Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, Maaike C de Vries, Marjan Huizing, Katrin Heldt, Lambert P van den Heuvel, Udo Wendel, Leo A Kluijtmans, Udo F Engelke, Ron A Wevers, Jan A M Smeitink, Eva Morava

Journal: Brain. 2009 Jan;132(Pt 1):136-46.

 

The heterogeneous group of 3-methylglutaconic aciduria type IV consists of patients with various organ involvement and mostly progressive neurological impairment in combination with 3-methylglutaconic aciduria and biochemical features of dysfunctional oxidative phosphorylation. Here ...

Last Updated: 26 Jan 2009

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Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.
 

Author(s): Ference J Loupatty, Jos P N Ruiter, Lodewijk IJlst, Marinus Duran, Ronald J A Wanders

Journal: Clin. Chem.. 2004 Aug;50(8):1447-50.

 

Last Updated: 27 Jul 2004

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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 "3-methylglutaconic aciduria" 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.