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Mesh term Barth Syndrome

Browse to parent terms:
Abnormalities, Multiple
Genetic Diseases, X-Linked
Heart Defects, Congenital
Lipid Metabolism, Inborn Errors


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.

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