3-Methylglutaconic aciduria

Common Name(s)

3-Methylglutaconic aciduria

3-methylglutaconic aciduria (3MGA) is the name for a group of five different conditions. All of these conditions affect the body’s mitochondria, the part of a human cell that produces energy. The causes, symptoms, and treatment of the five different types of 3MGA vary. Symptoms of 3MGA begin at birth or even before a baby is born. While each baby experiences different symptoms, it is important for all parents of babies with 3MGA to regularly take their baby to a cardiologist so that their baby's heart can be monitored. Without treatment for the heart conditions related to 3MGA, babies with this disorder can develop intellectual disabilities or life threatening heart problems. Some babies are screened for 3MGA at birth so that treatment can begin early however the conditions included in newborn screening vary state by state. For more information, visit Baby's First Test.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific 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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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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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.