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Studies with patients

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Is there any treatment?
There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection. Medicines may be prescribed to control heart problems. The dietary supplement carnitine has aided some Barth children but in others it has caused increasing muscle weakness and even precipitated heart failure. Only careful dietary monitoring directed by a physician or nutritionist familiar with the disorder can ensure proper caloric and nutritional intake.

What is the prognosis?
Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. Severe infections and cardiac failure are common causes of death in affected children.

What research is being done?
The NINDS supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. The 1996 discovery of the Barth gene, called G4.5 or TAZ1, is helping scientists and physicians better understand the metabolic and biochemical abnormalities seen in the disease and learn how genes cause heart disease, muscle weakness, and other problems in the body. The ultimate goal of this research is to find ways to prevent, treat, and cure these disorders.