3-Methylglutaconic aciduria type 3

Common Name(s)

3-Methylglutaconic aciduria type 3, 3-Methylglutaconic Aciduria Type III, Costeff syndrome, 3-alpha methylglutaconic aciduria type III

Type III 3-methylglutaconic aciduria is a neuroophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and of 3-methylglutaric acid is increased ({1:Anikster et al., 2001}). The phenotype is similar to Behr syndrome ({210000}) and may in some cases represent the same disorder ({8:Sheffer et al., 1992}; {6:Lerman-Sagie, 1995}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "3-Methylglutaconic aciduria type 3" 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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "3-Methylglutaconic aciduria type 3" 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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 type 3" returned 7 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

Go To URL
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

Go To URL
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

Go To URL

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 type 3" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.