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Barth Syndrome

What are the causes?

Barth syndrome is caused by mutations in a gene called G4.5. This gene is located on the X chromosome (Xq28). Ultimately, the genetic abnormality impairs the ability of cells to produce energy. At the cellular level, the problem is mediated by abnormalities in a protein called a tafazzin and by decreased production of a fat called cardiolipin. 

View What are the symptoms? What are the symptoms?  |  How is it treated? View How is it treated?

Medical text written October 2003 by Contact a Family. Approved October 2003 by Dr A Morris, Consultant Paediatrician with Special Interest In Metabolic Disease, Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK.

 

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