Technology
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Barth SyndromeBarth Syndrome is a devastating X-linked inherited disorder occurring in 1:300,000 live births, due to mutation in the gene encoding tafazzin. This enzyme remodels cardiolipin, an essential lipid in the mitochondrial membrane, enabling mitochondria to generate energy efficiently for the function of the cell. Children with Barth Syndrome develop heart failure, hypotonia and cyclic neutropenia during infancy and childhood, invariably resulting in death before middle age. For these patients and their families, this is a lethal disorder with no effective treatment.
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