Barth Syndrome Foundation

The syndrome of Barth is a grave genetic disease bound in him X which gets essentially boys. She shows itself by one or some of the following symptoms, in different degrees:
The neutropénie :
It is a weakness of the immune system, more particularly a decrease of the number of neutrophiles white blood cells that are essential to fight the bacterial infections. Because of this neutropénie, the boys affected by the syndrome of Barth run a higher risk of catching grave infections such as bacterial pneumonias and cutaneous infections.
The cardiomyopathy
It is a weakness of the cardiac muscle which, bound to a weakened immune system, constitutes most great danger for the boys who suffer from the syndrome of Barth.
Muscular weakness and General Fatigue
All the muscles, including the heart, present a cellular deficiency which limits their capacity to produce some energy. This lack of energy causes, in his turn, an extreme fatigue during the activities of the simplest in the most complicated as, for example, to walk, to write or to grow, but who ask for the strength, for the vigour and for the stamina.
Defect of Development and Delay of Growth
Most of the boys suffering from the syndrome of Barth are also below the average in weight and in size, some even in a considerable way. Most of the time, we suppose that the low growth of the boys is due to a nourishing deficiency or that it would be one of side effects of a chronic disease, a situation described by the expression " defect of development ". A recent study led thanks to the patients' international list belonging to the Foundation of the Syndrome of Barth ( the BSF) revealed that the young boys undergo a growth accelerated during the last years by the adolescence, what allows them then to affect a normal size.
Acidurie-3-méthyglutaconique
It is about a higher rate of an organic acid measured in the urine. However, there were cases where the rate of acid in the urine of certain