3 Methylglutaconicaciduria Type 2

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.