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Barth syndrome
Other Names for this Disease
- 3-methylglutaconic aciduria type II
- BTHS
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- MGA type II
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Overview
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
- Barth Syndrome. NORD. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract. Accessed June 3, 2011.
- 3-methylglutaconic aciduria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/3-methylglutaconic-aciduria. Accessed June 3, 2011.
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General Information
- 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.
- Orphanet is a European reference portal for 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.
- The 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.