It is also known as the 3-Methyleglutaconic aciduria type II. This is mainly rare but crucial genetic disorder. Few of the characteristics of the Barth syndrome are cardiomyopathy, neutropenia, muscle weakness, growth delay, exercise intolerance,
Cardiolipin abnormalities etc... This was named after the scientist Dr. Peter Barth who did research in this Barth syndrome. BTHS was found to be in one among every 300000 births. Basically it is found that this BTHS is caused due to the mutations in the tafazzin gene. But in 2008 Dr. Kulik found that all his patients with BTHS had abnormalities in the cardiolipin molecules in the mitochondria which are the energy producing cells.
Cardiolipin abnormalities etc... This was named after the scientist Dr. Peter Barth who did research in this Barth syndrome. BTHS was found to be in one among every 300000 births. Basically it is found that this BTHS is caused due to the mutations in the tafazzin gene. But in 2008 Dr. Kulik found that all his patients with BTHS had abnormalities in the cardiolipin molecules in the mitochondria which are the energy producing cells.
0 comments:
Post a Comment