If you or a loved one has been diagnosed with Barth syndrome, it is difficult to not feel overwhelmed. And learning everything about the disorder proves helpful in taking charge of your illness and your life.
Barth syndrome is a genetic condition which only affects males and is transmitted from mothers to sons. A mother may act as a carrier of Barth syndrome when her tafazzin gene, also called TAZ or G4.5 gene is mutated. She may not experience any signs and symptoms herself probably because of skewed X-chromosome inactivation.
No specific kind of treatment applies to Barth syndrome. Treatment options involve relieving the symptoms. For example, when neutropenia causes bacterial infections, antibiotics can be prescribed. Similarly, white cell production by the bone marrow can be stimulated through GCSF or ranulocyte colony stimulating factor drug. It thus, helps in combating infections.
A dietary supplement known as carnitine has also been used to alleviate symptoms related to Barth syndrome but its use remains debatable because while it has helped some children, it has increased muscle weakness and precipitated heart failure in others.
It is essential to be very careful about dietary monitoring of the patient which should be directed by nutritionist or an expert who can ensure proper caloric intake and nutritional intake.
If Barth syndrome is diagnosed timely and accurately, the chances of survival for affected boys can be increased substantially. But, in case the infections become severe and cardiac failure occur, they can cause death.
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