Barth syndrome is a rare, genetic condition that usually has an effect on males. It is a disorder of the metabolism and is caused by a gene mutation.
What is Barth Syndrome?
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.
What is the Treat for Barth Syndrome?
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.
Symptoms of Barth Syndrome
The signs and symptoms of the condition usually include the following:
- Skeletal myopathy
- Growth retardation
- Endocardial fibroelastosis
- Heart problems
- Enlarged heart
What is the Prognosis for Barth Syndrome?
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.
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