| Description: |
Barth syndrome is an X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and abnormal mitochondria. Patients present in infancy and patients usually die of heart failure in childhood. Urinary excretion of 3-methyglutaconic acid is increased while the activity of 3-methylglutaconyl coenzyme A (CoA) hydratase is normal; thus, it is sometime called "3-methylglutaconic aciduria, type 2". Mutations in the tafazzin (TAZ, previous named G4.5) gene cause Barth syndrome. The tafazzin protein shows sequence homology to a superfamily of acyltransferases involved in phospholipid metabolism. Over 40 mutations have been reported. TAZ is located at Xq28 and contains 11 exons that encode a 292 amino acid protein. |
