Barth Syndrome | Congenital Metabolic and Neuromuscular Disorder
Barth syndrome is a rare genetic disorder that affects boys. According to the National Institute of Neurologic Disorders and Stroke, Barth syndrome is passed from mother to son through the “X” sex chromosome. Baby boys born affected by Barth syndrome are usually at risk of serious infections.
Barth syndrome is a neuromuscular and metabolic disorder that affects at least 50 families worldwide or may be a larger because there is an indication that families with Barth syndrome are usually undiagnosed. Newborn boys with Barth syndrome has a higher chance of survival if early diagnosed and gets a maintenance treatment. They usually die of sepsis and heart failure. Further discussion of the details of Barth syndrome will be discussed further in this site.
Barth syndrome was named after the person who discovered this disorder in his research. It was found out in the Netherlands by Dr. Peter Barth in 1983. Barth syndrome is also called the Cardiomyopathy-neutropenia syndrome and 3-Methylglutaconic aciduria type II.
