Barth syndrome


What is Barth syndrome?

Barth syndrome is a relatively rare but serious genetic condition that usually affects boys and men. As of 2017, the best estimate is that it occurs in 1 in 300,000 U.S. births. Barth syndrome usually causes abnormalities with the heart, immune system, muscles, and growth. The condition is known to affect the mitochondria, so it is considered a mitochondrial disease. Mitochondria are important parts within a cell and are responsible for producing energy and other functions.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2018-02-02


Genetics Home Reference. Barth syndrome. Retrieved September 25, 2017 from

Ferreira, C., Thompson, R., & Vernon, H. (2014, October 9). Barth syndrome. (R. Pagon, M. Adam, HH Ardinger, et al., Eds.) GeneReviews. Retrieved July 4, 2017 from

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