Barth syndrome also known as 3-Methylglutaconic aciduria type II, It is an X-linke genetic disorder. Mutations in the tafazzin gene are closely associated with Barth syndrome. The disorder, which affects multiple body systems, is diagnosed almost exclusively in males.
The tafazzin gene translates and functions as an acyltransferase in complex lipid metabolism. The tafazzin gene is located at Xq28 the long arm of the X chromosome. Mutations in tafazzin that cause Barth syndrome span many different categories: missense, nonsense, deletion, frameshift, splicing.
Diagnosis can be done by Genetic blood test indicating deletion of the TAZ gene. No treatment for tafazzin gene but cinical trials by using AAV9-mediated TAZ gene replacement strategy
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