About Barth Syndrome Foundation of Canada
Barth syndrome (BTHS; OMIM #302060) is a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting in an inborn error of lipid metabolism. We are a nation-wide, entirely volunteer-based, charitable organization (registered charity number 86102 2002 RR0001) that works to find treatments, causes and a cure for Barth syndrome (BTHS). While independent, we are an affiliate of the Barth Syndrome Foundation, Inc. (BSF), and together we share a vision for a world in which not one more person shall suffer or perish from Barth syndrome.
On Rare Disease Day, we will raise awareness on our social media