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.

Synonyms: 3 Methylglutaconic Aciduria, Type II, MGA Type II, MGA Type 2s, 3-Methylglutaconicaciduria Type 2, MGA Type IIs, Type IIs, MGA, Type 2, 3-Methylglutaconicaciduria, 3-Methylglutaconicaciduria Type IIs, Syndrome, Barth, Type II, MGA, 3-Methylglutaconic Aciduria, Type II, Type 2s, MGA, 3-Methylglutaconicaciduria Type 2s, 3-Methylglutaconicaciduria Type II, Barth Syndrome, Type 2, MGA, Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria, 3 Methylglutaconicaciduria Type 2, MGA Type 2