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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Barth syndrome is caused by mutations in the TAZ gene, which is located on the X chromosome. The TAZ gene provides "instructions" for a group of proteins called tafazzins that serve at least two functions. First, these proteins play a role in the maintenance of the inner membranes of structures inside cells called mitochondria. Cells depend on mitochondria to produce the energy they need. Tafazzins are supposed to make sure that the concentration of a specific fat (cardio-lipin) is sufficient to maintain energy production inside the mitochondria. Tafazzins also promote the development of bone cells. Mutations in the TAZ gene that cause Barth syndrome disrupt the protein's ability to function correctly, thereby causing the signs and symptoms of Barth syndrome.
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.