Abstract
Introduction: The Barth syndrome (MIM#302060) is a rare X-linked recessive inherited disorder, which is based on a mutation in the tafazzin gene (TAZ). The classical clinical presentation consists of a (severe) cardiomyopathy/myopathy, prepubertal growth retardation and cyclic neutropenia. Seen from a pathobiochemical point of view there is a disturbance in mitochondrial energy supply. Laboratory findings show a reduction in cardiolipin and elevated monolysocardiolipin in the mitochondria.
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