Rare congenital x-linked disorder of lipid metabolism. barth syndrome is transmitted in an x-linked recessive pattern. the syndrome is characterized by muscular weakness, growth retardation, dilated cardiomyopathy, variable neutropenia, 3-methylglutaconic aciduria (type ii) and decreases in mitochondrial cardiolipin level. other biochemical and morphological mitochondrial abnormalities also exist.

Barth syndrome (BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal...