The only organization dedicated to saving lives around the world through education, advances in treatments, and finding a cure for Barth syndrome: a life-threatening genetic, multi-system disorder mostly affecting males.

Barth syndrome (BTHS; OMIM #302060) is a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting in an inborn error of lipid metabolism.

Heat intolerance or oversensitivity to extreme ambient temperature is common in those with mitochondrial disorders, such as Barth syndrome. Learn more about these risks and precautionary measures to prevent heat related injury.

About the Barth Syndrome Foundation (BSF) We are the only world-wide volunteer organization dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome (BTHS).

Oct 10, 2024 · Barth syndrome is an ultra-rare, life-threatening genetic disorder primarily affecting males. There are no FDA-approved treatments and no other therapies in late-stage clinical development. Studies show elamipretide can boost muscle …

We are a world leading source of support for research into the fundamental understanding of Barth syndrome (BTHS), diagnosis and treatments. If you are considering a diagnosis of Barth syndrome or for other reasons want information on this disorder, we can provide you with:

There is a huge spectrum of family planning options open to carriers of a Barth syndrome gene variant (TAZ) who are at risk of passing that mutation on to their children. There is no right or wrong preference, and we recommend that potential parents speak with a genetic counselor and/or therapist before making their decision.

As Barth syndrome science has matured, so too has our approach. Announced in 2021, our new Strategic Plan includes an expansion of Research alongside Development efforts to get to safe therapies faster for our community of Barth syndrome-affected individuals and families.

The inheritance of Barth syndrome follows an “X-linked” (or “sex-linked”) recessive pattern in which females can be carriers of a TAZ mutation but only males will have the disease. Because females have two copies of the X chromosome, they also have two copies of …

The inheritance of Barth syndrome follows an “X-linked” (or “sex-linked”) recessive pattern in which females can be carriers of a TAZ mutation but only males will have the disease. Because females