Barth syndrome

Common Name(s)

Barth syndrome, 3-methylglutaconic aciduria type II

Barth syndrome is a genetic disorder characterized by muscle weakness, including weakness and enlargement of the heart (cardiomyopathy). Other symptoms of Barth syndrome include low muscle tone (hypotonia), delayed growth, and a reduced ability to fight infections (neutropenia). These symptoms may be noticeable at birth or may not appear until later in life.

Barth syndrome is caused by a mutation to the TAZ gene, which is responsible for maintaining a fat called cardiolipin. Cardiolipin works with the part of cells that produce energy (mitochondria). A mutation in TAZ causes Barth syndrome because the cardiolipin no longer supports energy production. Barth syndrome is both a mitochondrial disease and an organic acid disorder because the lower-functioning mitochondria are less effective at breaking down organic acids (such as 3MGA), causing a build-up in the body.

Males are more likely to develop Barth syndrome because TAZ is located on the X chromosome. Males have one X chromosome (one copy of TAZ) while females have two (2 copies of TAZ). Thus for boys, if there is a change in their only copy of TAZ, they will have symptoms. Girls need both of their TAZ gene copies to be changed in order to have symptoms.

Diagnosis may include a urine sample to check for high levels of organic acids. Genetic testing may be used to confirm the diagnosis. Treatment varies depending on symptoms. Research in gene therapy is ongoing with the hope of developing a cure. Many babies are screened for 3MGA disorders at birth so that treatment can begin early, but the conditions included in newborn screening vary from state to state. For more information, visit Baby’s First Test.Talk with your baby’s doctor about the most current treatment options. Genetic counselor and support groups are also a good sources of information.

Source: Advocacy organizations associated with the condition.

 

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: 29 May 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: 18 Jun 2015

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 18 Jun 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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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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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

Last Updated: 18 Jun 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: 29 May 2015

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General Support Organizations

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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: 29 May 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.

http://www.childrenscardiomyopathy.org

Last Updated: 18 Jun 2015

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 18 Jun 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.

www.oaanews.org

Last Updated: 18 Jun 2015

View Details
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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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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 18 Jun 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: 29 May 2015

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General Support Organizations

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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

Open Doc
2014 Conference Program

2014 Conference Program

Updated 14 Jan 2015

Open Doc
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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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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