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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • BTHS
  • 3-methylglutaconic aciduria type II
  • MGA type II
  • Cardioskeletal myopathy with neutropenia and abnormal mitochondria
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Home > Genetic & Rare Diseases Information Center (GARD) > Barth syndrome



Barth syndrome
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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.[1] It is caused by mutations in the TAZ gene and is inherited in an X-linked recessive manner.[1][2] Treatment is directed toward the specific symptoms that are apparent in each individual.[1]


References
  1. Barth Syndrome. NORD. September 17, 2007 Available at: http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract. Accessed June 3, 2011.
  2. 3-methylglutaconic aciduria. Genetics Home Reference. November 2007 Available at: http://ghr.nlm.nih.gov/condition/3-methylglutaconic-aciduria. Accessed June 3, 2011.
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Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Barth syndrome click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 General | Newborn Screening
More Detailed Information (Found 10 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

  • General

    • Genetics Home Reference (GHR) contains information on Barth syndrome. Click on the link to go to GHR and review the information.
    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Barth syndrome. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Barth syndrome. Click on the link to view a sample search on this topic.
  • Newborn Screening

    • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
    • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
    • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

    • The U.S. National Newborn Screening Status Report lists the status of newborn screening state by state and is available on the National Newborn Screening and Genetic Resource Center (NNSGRC) Web site. The NNSGRC provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials. Click on the link above to view the report.
 Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites
Organizations (Found 13 resources)
Groups providing a wide range of services, supportive resources, and information.

  • Disease-Specific Organizations

  • Umbrella Organizations

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
 Ask-an-Expert | Testing | Parent Resources
Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Ask-an-Expert

    • You can submit a question to Ask the Mito DocSM , a service of the United Mitochondrial Diseases Foundation. Information contained in Ask the Mito DocSM is for informational and educational purposes only.
  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 Upcoming Conferences | Past Conferences
Scientific Conferences (Found 4 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

  • Upcoming Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
  • Past Conferences

    • Scientific and Medical Meeting about Barth Syndrome , July 29, 2010 - July 30, 2010
      Description: The anticipated outcomes of this meeting series were increased collaborations among the participants; an outline of future research strategy, focused on finding a treatment for Barth syndrome; in-depth evaluations of approaches to the treatment of Barth syndrome; and increased communication and publication of material directly relevant to Barth syndrome.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
    • United Mitochondrial Disease Foundation Annual Symposium , June 24, 2009 - June 27, 2009
      Description: The objectives of this symposium were to (1) describe the latest findings regarding mitochondrial diseases; (2) share research findings and award new research grants; (3) explore the clinical manifestations of mitochondrial disorders, including diagnosis and treatment considerations, and understand the concepts of mitochondrial disease therapy; and (4) evaluate the links between mitochondrial disease and a host of more well-known diseases.
 
Clinical Trials & Research (Found 6 resources)
Resources where you may find research studies and clinical trials.

    • ClinicalTrials.gov lists trials that are studying or have studied Barth syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
    • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
    • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm
  • Patient Registry

    • The Barth Syndrome Registry and DNA Bank (BRR) at the University of Florida  is collecting information directly from families and from patient records to build a large anonymized database that is useful for answering scientific research questions and that is a source of medical information.  Additionally, the registry is collecting blood samples for DNA isolation and storage and for the development of special cell lines.
    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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