A member asked:

What can you tell me about barth syndrome?

A doctor has provided 1 answer
Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

Barth Syndrome, or : 3-methylglutaconic aciduria type II, is caused by mutation of the gene on Chr. Xq28 that codes for tafazzin, an enzyme needed for synthesis of cardiolipin, a component of the inner mitochondrial membrane needed for energy production. Each son of a carrier mom has a 50% chance of having Barth syndrome; each daughter, a 50% chance of being a carrier. See barthsyndrome. org/about-barth-syndrome.

Answered 2/28/2015

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