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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/barth-syndrome-8516/overview/36621 • DATE UPDATED: 2018-02-02

References

Genetics Home Reference. Barth syndrome. Retrieved September 25, 2017 from https://ghr.nlm.nih.gov/condition/barth-syndrome.

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 https://www.ncbi.nlm.nih.gov/books/NBK247162/.

Contact a ThinkGenetic Counselor

Do you have additional questions that haven't been answered? Ask a ThinkGenetic Counselor — a real expert in the field of genetics. Just fill out this form to send an email. We will be in touch within 48 hours.

Please sign me up for your mailing list.

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me

Welcome to the ThinkGenetic beta. More content is added weekly so come back and check often. Please provide your feedback by filling out a contact us form.