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Barth Syndrome Foundation
P.O. Box 618
Larchmont, NY 10538
The Barth Syndrome Foundation (BSF) together with its affiliates, is a group of international non-profit organizations that provide information, resources and services for healthcare professionals and families worldwide. Advising the group is a Scientific and Medical Advisory Board (SMAB), which comprises clinicians and scientists who are leading experts in Barth syndrome. BSF sponsors a research grant program to facilitate advances in Barth syndrome (BTHS) understanding and to encourage the discovery of new treatments. The Barth Syndrome Medical Database and Biorepository have been established to promote the collection and sharing of clinical histories and biological samples (including cell lines) of BTHS patients. Barth syndrome is a rare, metabolic, and neuromuscular, genetic disorder that occurs exclusively in males, since it is passed from mother to son through the X chromosome. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course varies considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils, neutropenia) that help to fight bacterial infections, and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, such as 3-methylglutaconic aciduria/acidemia.
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