Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is a genetic disorder. The disorder, which affects multiple body systems, is primarily found in males. It is named after Dutch pediatric neurologist Peter Barth. The symptoms are abnormalities of the heart and skeletal muscle, low levels of white blood cells, growth retardation, increased levels of acids in urine and blood.
HOW IS BARTH SYNDROME DIAGNOSED?
The cardiologist may put you through a genetic screening test. This condition is usually diagnosed in one’s childhood or infancy. The level of urine acids may also be studied in a urine test. Other blood tests may also be conducted along with metabolic screening for young children.
HOW IS BARTH SYNDROME TREATED?
A cardiologist treats Barth Syndrome by the following: 1. Physical therapy 2. Antibiotics 3. Lifestyle changes 4. Heart medications 5.Surgically replacing the pacemaker
DID YOU KNOW?
Males that are affected with Barth Syndrome have reduced life expectancy. Children may die of heart failure or infection. However many males can survive till their late forties. A mother who is a carrier of a Barth syndrome mutation shows no signs or symptoms of this disorder.