Barth syndrome (BTHS)
- Article
- 2021-03-02
Barth syndrome (BTHS) is a rare genetic disorder of lipid metabolism that primarily affects men. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) that leads to decreased production of an enzyme needed to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is considered serious. The main features are often combinations of varying degrees of heart muscle weakness (cardiomyopathy), neutropenia (low white blood cell count, which can lead to an increased risk of bacterial infections), decreased muscle tone (hypotonia), muscle weakness, undeveloped skeletal muscle, slow growth, fatigue, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondrial function). While some with BTHS may have all of these characteristics, others may only have one or two and are often misdiagnosed. BTHS is an X-linked genetic disorder that is passed from mother to son through the X chromosome. A mother who is a carrier of BTHS usually does not show any signs or symptoms of the condition herself. On average, 50 percent of children from a carrying mother will inherit the faulty gene, but only boys will develop symptoms. All daughters of an affected male will be carriers, but will typically have no symptoms. BTHS is an X-linked genetic disorder that is passed from mother to son through the X chromosome. A mother who is a carrier of BTHS usually does not show any signs or symptoms of the condition herself. On average, 50 percent of children from a carrying mother will inherit the faulty gene, but only boys will develop symptoms. All daughters of an affected male will be carriers, but will typically have no symptoms. BTHS is an X-linked genetic disorder that is passed from mother to son through the X chromosome. A mother who is a carrier of BTHS usually does not show any signs or symptoms of the condition herself. On average, 50 percent of children from a carrying mother will inherit the faulty gene, but only boys will develop symptoms. All daughters of an affected male will be carriers, but will typically have no symptoms.
Therapy
There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be treated effectively with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate the bone marrow's production of white blood cells and help fight infections. Medicines can be prescribed to control heart problems. The dietary supplement carnitine has helped some children with Barth syndrome, but in others it has caused progressive muscle weakness and even accelerated heart failure. Only careful diet control under the direction of a doctor or nutritionist familiar with the condition can ensure proper calorie and nutritional intake.
Prognosis
Early and accurate diagnosis is key to long-term survival for boys born with Barth syndrome. The condition was once considered uniformly fatal in childhood, but some people are now living much longer. Serious infections and heart failure are common causes of death in affected children.
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