Costeff syndrome

Common Name(s)

Costeff syndrome, 3-Methylglutaconic aciduria type 3

Costeff syndrome is a rare genetic disorder more common in the Iraqi-Jewish population. It is caused by a mutation (change) in the OPA3 gene. This gene makes OPA3 protein, which may help shape the mitochondria (small parts of each cell that make energy). When the mitochondria are oddly shaped, they can’t make enough energy. The optic nerve (involved in vision) and movement center of the brain are affected the most. Vision loss begins in infancy or early childhood and gets worse over time (progressive). The child may also have involuntary eye movements and their eyes may not look in the same direction. Movement symptoms begin in late childhood and include stiffening muscles, jerky movements and decreased ability to coordinate muscle movement. Some children have mild to moderate intellectual delays. Progression seems to stop in early adulthood. The effect on life expectancy is unknown.

Costeff is both a mitochondrial and organic acid disorder because the oddly shaped mitochondria can't break down organic acids well. Organic acids (such as 3MGA) are made as our body breaks down extra protein. Although Costeff is grouped with other 3MGA disorders, the level of acid build up is not enough to cause the severe symptoms seen in the other 3MGA disorders. Costeff is an autosomal recessive disorder, meaning both copies of OPA3 must be mutated.

A diagnosis of Costeff is confirmed by genetic testing. Although there is currently no cure, there are resources to help manage the disorder. Many babies are screened for 3MGA disorders at birth, but the disorders included in newborn screening vary from state to state. For more information, visit Baby’s First Test. Research is ongoing so talk with your child's doctor about current treatment options. Genetic counselors and support groups are also good sources of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Costeff syndrome" for support, advocacy or research.

American Foundation for the Blind

The American Foundation for the Blind removes barriers, creates solutions, and expands possibilities so people with vision loss can achieve their full potential.

Last Updated: 20 Jul 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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Jewish Genetic Disease Consortium

The Jewish Genetic Disease Consortium (JGDC), founded in 2005, gives one voice to many organizations that share the common goal of increasing awareness and raising carrier screening rates for genetic diseases found more frequently in the Jewish population. Activities of the JGDC include the COUPLES AWARE clergy education program, the Medical Grand Rounds and public information programs.

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 "Costeff syndrome" for support, advocacy or research.

American Foundation for the Blind

The American Foundation for the Blind removes barriers, creates solutions, and expands possibilities so people with vision loss can achieve their full potential.

http://www.afb.org

Last Updated: 20 Jul 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
Jewish Genetic Disease Consortium

The Jewish Genetic Disease Consortium (JGDC), founded in 2005, gives one voice to many organizations that share the common goal of increasing awareness and raising carrier screening rates for genetic diseases found more frequently in the Jewish population. Activities of the JGDC include the COUPLES AWARE clergy education program, the Medical Grand Rounds and public information programs.

http://www.JewishGeneticDiseases.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

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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 "Costeff syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

A missense mutation in the murine Opa3 gene models human Costeff syndrome.
 

Author(s): Vanessa J Davies, Kate A Powell, Kathryn E White, Wanfen Yip, Vanessa Hogan, Andrew J Hollins, Jennifer R Davies, Malgorzata Piechota, David G Brownstein, Stuart J Moat, Philip P Nichols, Michael A Wride, Michael E Boulton, Marcela Votruba

Journal: Brain. 2008 Feb;131(Pt 2):368-80.

 

Opa3 mRNA is expressed in all tissues examined to date, but currently the function of the OPA3 protein is unknown. Intriguingly, various mutations in the OPA3 gene lead to two similar diseases in humans: autosomal dominant inherited optic atrophy and cataract (ADOAC) and a metabolic ...

Last Updated: 28 Jan 2008

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Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
 

Author(s): Y Anikster, R Kleta, A Shaag, W A Gahl, O Elpeleg

Journal: Am. J. Hum. Genet.. 2001 Dec;69(6):1218-24.

 

Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) is a neuro-ophthalmologic syndrome that consists 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 ...

Last Updated: 12 Nov 2001

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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 "Costeff syndrome" 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.