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: 14 Jan 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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.

https://www.barthsyndrome.org

Last Updated: 14 Jan 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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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Barth Syndrome Professional Healthcare Brochure

Important information regarding diagnosis and treatment of Barth syndrome.

Updated 12 Apr 2014

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2014 Conference Program

2014 Conference Program

Updated 14 Jan 2015

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How to Diagnose

How to diagnose Barth syndrome

Updated 14 Jan 2015

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Overview of Barth syndrome

Overview of Barth syndrome

Updated 14 Jan 2015

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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 43 free, full-text research articles on human participants. First 3 results:

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies.
 

Author(s): Gang Wang, Megan L McCain, Luhan Yang, Aibin He, Francesco Silvio Pasqualini, Ashutosh Agarwal, Hongyan Yuan, Dawei Jiang, Donghui Zhang, Lior Zangi, Judith Geva, Amy E Roberts, Qing Ma, Jian Ding, Jinghai Chen, Da-Zhi Wang, Kai Li, Jiwu Wang, Ronald J A Wanders, Wim Kulik, Frédéric M Vaz, Michael A Laflamme, Charles E Murry, Kenneth R Chien, Richard I Kelley, George M Church, Kevin Kit Parker, William T Pu

Journal: Nat. Med.. 2014 Jun;20(6):616-23.

 

Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combined patient-derived and genetically engineered induced pluripotent stem cells (iPSCs) with tissue engineering to elucidate the pathophysiology ...

Last Updated: 6 Jun 2014

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Deletion of the cardiolipin-specific phospholipase Cld1 rescues growth and life span defects in the tafazzin mutant: implications for Barth syndrome.
 

Author(s): Cunqi Ye, Wenjia Lou, Yiran Li, Iliana A Chatzispyrou, Maik Hüttemann, Icksoo Lee, Riekelt H Houtkooper, Frédéric M Vaz, Shuliang Chen, Miriam L Greenberg

Journal: J. Biol. Chem.. 2014 Feb;289(6):3114-25.

 

Cardiolipin (CL) that is synthesized de novo is deacylated to monolysocardiolipin (MLCL), which is reacylated by tafazzin. Remodeled CL contains mostly unsaturated fatty acids. In eukaryotes, loss of tafazzin leads to growth and respiration defects, and in humans, this results in ...

Last Updated: 10 Feb 2014

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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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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 5 free, full-text review articles on human participants. First 3 results:

The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype.
 

Author(s): Vaishnavi Raja, Miriam L Greenberg

Journal: Chem. Phys. Lipids. 2014 Apr;179():49-56.

 

The phospholipid cardiolipin (CL) plays a role in many cellular functions and signaling pathways both inside and outside of mitochondria. This review focuses on the role of CL in energy metabolism. Many reactions of electron transport and oxidative phosphorylation, the transport of ...

Last Updated: 5 Mar 2014

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Barth syndrome.
 

Author(s): John L Jefferies

Journal: Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):198-205.

 

Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst ...

Last Updated: 24 Jul 2013

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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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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

Resistance Exercise in Barth Syndrome
 

Status: Recruiting

Condition Summary: Barth Syndrome

 

Last Updated: 18 Dec 2013

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Heart and Muscle Metabolism in Barth Syndrome
 

Status: Recruiting

Condition Summary: Barth Syndrome

 

Last Updated: 21 Jun 2012

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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: 6 May 2015

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