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3 Methylglutaconic Aciduria, Type II

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.