Complete Information on Barth syndrome

Barth syndrome also known as 3-Methylglutaconic aciduria type II. Barth syndrome is a rare, metabolic, and neuromuscular, genetic disorder that occurs particularly in males, since it is passed from mother to son through the X chromosome. Signs and symptoms of Barth syndrome including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. Some of the symptoms may be transitory, although in some individuals, symptoms can be severe, and the disorder may be lethal.

As with any severe disorder, the influence on the whole household of coping with Barth Syndrome can be tremendous. It affects at least one hundred families worldwide. The syndrome is believed to be seriously under-diagnosed and estimated to happen in 1 out of roughly 200,000 births. Bacterial infections caused by neutropenia. Mutations in the BTHS gene are associated with cardiolipin molecules in the electron transportation string and the mitochondrial membrane system. The gene is 6,234 bases in duration, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acidic episode of 292 with a weight of 33. 5 kDa.

It is located at Xq28; the lengthy weapon of the X chromosome. Barth Syndrome is caused by 60% frameshift, stopover, or splice-site alterations and 30 7197ifference in protein's accuse. Barth syndrome is establish solely in males. There is no particular handling for Barth syndrome, but each of the private problems can be successfully controlled, and both the eye disease and brief height frequently firmness completely after puberty.