What is barth syndrome?

See below: A serious x-linked genetic disorder, primarily affecting males. Characteristics of this multi-system disorder often include combinations and varying degrees of: cardiomyopathy; neutropenia; underdeveloped skeletal musculature and muscle weakness; growth delay; exercise intolerance; cardiolipin abnormalities; and 3-methylglutaconic aciduria, type ii (mga, type ii)-build up of organic acid.

Related Questions

What type of mutation causes barth syndrome?

X-linked mutation. Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. https://www.barthsyndrome.org/home has information & resources. Read more...