Barth Syndrome
Barth syndrome is a rare, X-linked genetic disorder characterized by cardiac and skeletal myopathy, neutropenia (persistently low levels of white blood cells called neutrophils), and organic acidemia with 3-methylglutaconic aciduria. It primarily affects boys and is caused by mutations in the TAZ gene, which provides instructions for making a protein called tafazzin that is important for the normal function of mitochondria, the energy-producing structures in cells. The symptoms and severity of Barth syndrome can vary widely among affected individuals.