Barth Syndrome

**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.

**Tree numbers:** - C14.240.400.172 - C14.280.400.172 - C16.131.077.121 - C16.131.240.400.172 - C16.320.322.068 - C16.320.565.398.224 - C18.452.584.563.224 - C18.452.648.398.224

**Synonyms:** - MGA Type 2 - 3-Methylglutaconic Aciduria, Type II - 3-Methylglutaconicaciduria Type 2 - 3-Methylglutaconicaciduria Type II - Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria - MGA Type II