Barth Syndrome Explained
Rennie McCarthy, Chief Executive Officer at Stealth Biotherapeutics, provides an overview of Barth syndrome.
Barth syndrome is a rare genetic disorder caused by mutations in the tafazzin (TAZ) gene, that results in reduced levels of cardiolipin, a compound vital to mitochondrial membrane stability.
The primary clinical features of Barth syndrome include cardiomyopathy, neutropenia, skeletal muscle weakness, growth delay, and characteristic facial features (e.g., broad nasal bridge, deep-set eyes, small chin, and prominent ears).
Management of Barth syndrome is focused on addressing the various symptoms and complications. Stealth Biotherapeutics is developing elamipretide, a mitochondrial protective agent, as a possible treatment option for Barth syndrome.
To stay up-to-date on this and other rare genetic disorders, visit checkrare.com/diseases/congenital-and-genetic-conditions/
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