Other Names for this Disease
- 3-methylglutaconic aciduria type 2
- 3-methylglutaconic aciduria type II
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- Cardioskeletal myopathy-neutropenia
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The treatment of Barth syndrome is generally directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals which includes a pediatrician, pediatric cardiologist, hematologist, specialist in the treatment of bacterial infections, physical therapist, occupational therapist, and/or other health care professionals. Many infants and children with Barth syndrome require therapy with diuretic and digitalis medications to treat heart failure. Some affected children are gradually removed from such cardiac therapy during later childhood due to improvement of heart functioning. For affected individuals with confirmed neutropenia, complications due to bacterial infection are often preventable by ongoing monitoring and early therapy of suspected infections with antibiotics. For example, antibiotics may be provided as a preventive (prophylactic) therapy during neutropenia to prevent the onset of infection. Other treatment for this disorder is typically symptomatic and supportive.
Last updated: 6/3/2011
- Barth Syndrome. NORD. September 17, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract. Accessed 6/3/2011.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- 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.
- Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.
- 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, enter the disease name in the "Text Search" box. Then click "Submit Query".