Barth syndrome
Lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin
Nº Q928424 ★
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Barth syndrome
Lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin
Barth syndrome (BTHS) is an ultra-rare, but serious X-linked genetic disorder, caused by pathogenic variants in the TAFAZZIN gene, which leads to an inborn error of lipid metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal.
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Barth syndrome (BTHS) is an ultra-rare, but serious X-linked genetic disorder, caused by pathogenic variants in the TAFAZZIN gene, which leads to an inborn error of lipid metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal. The syndrome is diagnosed almost exclusively in males.
Texto: Wikipédia em inglês, CC BY-SA 4.0. · Imagem: NEUROtiker (Public domain) ·
