Barth Syndrome

Common Name(s)

Barth Syndrome, 3-Methylglutaconic aciduria type 2

Barth syndrome is a metabolic and neuromuscular disorder, occurring exclusively in males, that primarily affects the heart, immune system, and growth. It typically becomes apparent during infancy or early childhood, but the age of onset, associated symptoms and findings, and disease course varies considerably among affected individuals. The main characteristics of the condition include abnormalities of heart and skeletal muscle (cardiomyopathy and skeletal myopathy); low levels of certain white blood cells called neutrophils that help to fight bacterial infections (neutropenia); and growth retardation, potentially leading to short stature. Other signs and symptoms may include increased levels of certain organic acids in the urine and blood (such as 3-methylglutaconic acid), and increased thickness of the left ventricle of the heart due to endocardial fibroelastosis, which can cause potential heart failure. It is caused by mutations in the TAZ gene and is inherited in an X-linked recessive manner. Treatment is directed toward the specific symptoms that are apparent in each individual.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Barth Syndrome" 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: 12 Apr 2014

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Barth Syndrome" 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.

http://www.barthsyndrome.org

Last Updated: 12 Apr 2014

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Feb 2013

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General Resources

UMDF National Resource Guide

The UMDF Mitochondrial Resource Guide is available Online! It represents many hours of searching for the best information and resources to help you care for yourself and/or your family member affected by a mitochondrial disease.

Updated 29 Oct 2012

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2012 Conference Program

Barth Syndrome Foundation 2012 Conference Program

Updated 2 Nov 2012

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Barth Syndrome Professional Healthcare Brochure

Important information regarding diagnosis and treatment of Barth syndrome.

Updated 12 Apr 2014

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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 "Barth Syndrome" returned 41 free, full-text research articles on human participants. First 3 results:

Novel mutations in the TAZ gene in patients with Barth syndrome.
 

Author(s): S Mazurová, M Tesařová, M Magner, H Houšťková, H Hansíková, J Augustínová, V Tomek, A Vondráčková, J Zeman, T Honzík

Journal: Prague Med Rep. 2013 ;114(3):139-53.

 

Barth syndrome is an X-linked recessive disorder that is caused by mutations in Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia, skeletal myopathy, growth deficiency ...

Last Updated: 7 Oct 2013

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Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome.
 

Author(s): Jan Dudek, I-Fen Cheng, Martina Balleininger, Frédéric M Vaz, Katrin Streckfuss-Bömeke, Daniela Hübscher, Milena Vukotic, Ronald J A Wanders, Peter Rehling, Kaomei Guan

Journal: Stem Cell Res. 2013 Sep;11(2):806-19.

 

Barth syndrome (BTHS) patients carrying mutations in tafazzin (TAZ1), which is involved in the final maturation of cardiolipin, present with dilated cardiomyopathy, skeletal myopathy, growth retardation and neutropenia. To study how mitochondrial function is impaired in BTHS patients, ...

Last Updated: 6 Aug 2013

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A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.
 

Author(s): Gi Beom Kim, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh, Moon-Woo Seong, Sung Sup Park

Journal: J. Korean Med. Sci.. 2013 May;28(5):784-7.

 

A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite ...

Last Updated: 16 May 2013

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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 "Barth Syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Barth syndrome.
 

Author(s): Sarah L N Clarke, Ann Bowron, Iris L Gonzalez, Sarah J Groves, Ruth Newbury-Ecob, Nicol Clayton, Robin P Martin, Beverly Tsai-Goodman, Vanessa Garratt, Michael Ashworth, Valerie M Bowen, Katherine R McCurdy, Michaela K Damin, Carolyn T Spencer, Matthew J Toth, Richard I Kelley, Colin G Steward

Journal:

 

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males ...

Last Updated: 27 Feb 2013

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Barth syndrome, a human disorder of cardiolipin metabolism.
 

Author(s): Michael Schlame, Mindong Ren

Journal: FEBS Lett.. 2006 Oct;580(23):5450-5.

 

Barth syndrome is an X-linked recessive disease caused by mutations in the tafazzin gene. Patients have reduced concentration and altered composition of cardiolipin, the specific mitochondrial phospholipid, and they have variable clinical findings, often including heart failure, myopathy, ...

Last Updated: 3 Oct 2006

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New insights into the regulation of cardiolipin biosynthesis in yeast: implications for Barth syndrome.
 

Author(s): Guiling Li, Shuliang Chen, Morgan N Thompson, Miriam L Greenberg

Journal: Biochim. Biophys. Acta. 2007 Mar;1771(3):432-41.

 

Recent studies have revealed an array of novel regulatory mechanisms involved in the biosynthesis and metabolism of the phospholipid cardiolipin (CL), the signature lipid of mitochondria. CL plays an important role in cellular and mitochondrial function due in part to its association ...

Last Updated: 26 Mar 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Heart and Muscle Metabolism in Barth Syndrome
 

Status: Recruiting

Condition Summary: Barth Syndrome

 

Last Updated: 21 Jun 2012

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Resistance Exercise in Barth Syndrome
 

Status: Recruiting

Condition Summary: Barth Syndrome

 

Last Updated: 18 Dec 2013

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North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 18 Nov 2013

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