Rennie McCarthy, Chief Executive Officer at Stealth Biotherapeutics, provides an overview of Barth syndrome.
Mutations in the tafazzin (TAZ) gene cause Barth syndrome, a rare genetic disorder. This mutation results in reduced levels of cardiolipin, a compound vital to mitochondrial membrane stability.
The primary symptoms of this disease 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).
As Ms. McCarthy noted, a fatal cardiac event often leads to the diagnosis of this disease in many children. In turn, this raises awareness about this x-linked disease in subsequent siblings.
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.
To stay up-to-date on this and other rare genetic disorders, visit checkrare.com/diseases/congenital-and-genetic-conditions/