Definition: 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.
Other names type IIs, MGA; type IIs, 3-methylglutaconicaciduria; type II, MGA; type II, 3-methylglutaconicaciduria; type 2s, 3-methylglutaconicaciduria; type 2, 3-methylglutaconicaciduria; Syndrome, Barth; MGA type IIs; 3-methylglutaconicaciduria type IIs; 3-methylglutaconicaciduria type 2s; 3 methylglutaconicaciduria type 2; MGA Type 2; MGA type II; 3-methylglutaconicaciduria type II; 3-methylglutaconicaciduria type 2
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Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria
