Barth syndrome

Overview

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.

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Are there other names for Barth syndrome?

How common is Barth syndrome?

Is Barth syndrome a mitochondrial disease?

Are there other names for Barth syndrome?

Other names for Barth syndrome include:

  • BTHS
  • 3-methylglutaconic aciduria type 2
  • 3 methylglutaconic aciduria, type II
  • MGA type 2
  • MGA type II
References
How common is Barth syndrome?

Barth syndrome is estimated to occur in 1 in 300,000 U.S. births. Fewer than 10 new patients may be diagnosed with Barth syndrome in the U.S. each year. Studies in England and South Wales suggest the incidence may be as high as 1 in 130,000 births. More than 150 cases has been reported in the scientific literature.

References
Is Barth syndrome a mitochondrial disease?

Barth syndrome is considered a mitochondrial disease, specifically a mitochondrial myopathy (a disease that particularly affects the muscles). This is because Barth syndrome is caused by changes in the tafazzin TAZ gene. More people are using the full name (tafazzin) when referring to this gene, due to another gene with the same abbreviation (not associated with Barth syndrome). The tafazzin gene contains instructions for the tafazzin protein, which is located in mitochondria, the energy-producing cells in the body. Tafazzin protein is involved in altering cardiolipin, which plays a critical role in the mitochondrial inner membrane. Cardiolipin is a lipid (a type of fat) that can only be found in the mitochondria. This problem also causes certain compounds to build up in the body, such as 3-methylglutaconic acid (3-MGC) and monolysocardiolipins (MLCL).

References

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