Barth syndrome is a rare condition of lipid metabolism that usually has an effect on the males. It is a genetic disorder that is genetic and is caused by a mutation in the tafazzin gene that can lead to decreased production of an enzyme that is needed to produce cardiolipin.
Cardiolipin is a lipid that is required for energy metabolism. The condition is considered to severe as it has an effect on various body systems. It shows characteristics like varying degrees of cardiomypoathy, neutropenia, hypotonia, muscle weakness, undeveloped skeletal muscles, delayed growth, lack of stamina, physical disabilities, and methylglutaconic aciduria.
Although there is no specific treatment for treatment for the condition but, the bacterial infections caused by neutropenia can be treated with antibiotics. There can medicines prescribed to a patient that can control heart troubles.
The signs and symptoms of the condition usually include the following:
Men suffering with Barth syndrome need to be diagnosed at an early stage so that the chances of their survival are increased. Children who suffer from the syndrome usually die due to cardiac failure and severe infections.
Image courtesy: Getty Images
Read more articles on Barth Syndrome.