What is Barth syndrome?
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Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is considered serious. Its main characteristics often include combinations in varying degrees of cardiomyopathy (a disorder of the heart muscle leading to a poorly functioning heart), neutropenia (a reduction in the number of white blood cells which may lead to an increased risk of bacterial infections), hypotonia (reduced muscle tone), muscle weakness, undeveloped skeletal muscles, delayed growth, lack of stamina, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondria function). Although some with BTHS may have all these characteristics, others have only one or two, and are thus often misdiagnosed. BTHS is an X-linked genetic condition passed from mother to son through the X chromosome. A mother who is a carrier of BTHS shows no sign or symptom of the disorder herself. On an average, 50 percent of children born to a carrier mother inherit the defective gene, but only boys develop symptoms. All daughters born to an affected male are carriers.
This answer is based on source information from the National Institute of Neurological Disorders and Stroke.
Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce... More -
American Heart Association answered:Barth syndrome is a rare but serious genetic disorder that affects males. The signs and symptoms of Barth syndrome vary and can include: weakness in the immune system (neutroopenia), heart muscle weakness (cardiomyopathy), muscle weakness (myopathy), general fatigue and retardation of growth. Early diagnosis is key to survival.
Barth syndrome is a rare but serious genetic disorder that affects males. The signs and symptoms of Barth syndrome vary and can include: weakness in the immune system (neutroopenia), heart muscle weakness (cardiomyopathy), muscle weakness... More -
Barth syndrome is a rare metabolic and neuromuscular disorder that appears to only affect males. At birth or a few months after birth, infants typically have reduced muscle tone and an enlarged heart that does not pump efficiently. Other characteristics of Barth syndrome include muscle weakness, fatigue, short stature, and frequent infections (caused by a weakened immune system).
Researchers estimate that Barth syndrome affects at least 50 families worldwide, but some experts believe that Barth syndrome is under-diagnosed. Quality studies determining the prevalence of the disorder are lacking. However, it is estimated that fewer than 10 babies are born with Barth syndrome each year in the United States. This suggests an incidence rate of one out of 300,000-400,000 births. On average, 50% of children born to a carrier mother will inherit the defective gene, but only boys will have symptoms. All daughters born to an affected male will be carriers.
There is currently no cure or specific treatment for Barth syndrome. Instead, treatment focuses on reducing the symptoms and preventing complications, such as infections. Severe infections and heart failure are common causes of death in affected children. Early diagnosis and treatment are essential for prolonged survival for boys born with Barth syndrome.
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Barth syndrome is a rare metabolic and neuromuscular disorder that appears to only affect males. At birth or a few months after birth, infants typically have reduced muscle tone and an enlarged heart that does not pump efficiently. Other... More
