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.
Also Known As:
3-Methylglutaconic Aciduria, Type II; 3-Methylglutaconicaciduria Type 2; 3-Methylglutaconicaciduria Type II; Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria; MGA Type 2; MGA Type II; 3 Methylglutaconic Aciduria, Type II; 3 Methylglutaconicaciduria Type 2; 3-Methylglutaconicaciduria Type 2s; 3-Methylglutaconicaciduria Type IIs; MGA Type 2s; MGA Type IIs; Syndrome, Barth; Type 2, 3-Methylglutaconicaciduria; Type 2, MGA; Type 2s, MGA; Type II, MGA; Type IIs, MGA