|
|
|
|
||||
Barth Syndrome
Background
Barth syndrome is a very rare genetic disorder, which only affects males. The most serious problems in Barth syndrome are heart muscle weakness (see entry, Cardiomyopathy) and increased susceptibility to bacterial infections. This susceptibility is caused by a reduction in the number of certain white blood cells, called neutrophils. Neutrophil numbers often vary with time in this condition and patients are said to have 'cyclical neutropenia.' Other features include short stature and muscle weakness, which can lead to fatigue or delayed motor development in early childhood. Analysis of urine usually shows increased quantities of certain organic acids (3-methylglutaconic and, sometimes, 2-ethylhydracrylic).
Donate Now
makingcontact.org
Pounds for parents
Subscribe to the 
