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.

Descriptor ID	D056889
MeSH Number(s)	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 C18.452.648.398.224
Concept/Terms	Barth Syndrome Barth Syndrome Syndrome, Barth 3-Methylglutaconicaciduria Type 2 3 Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type 2s Type 2, 3-Methylglutaconicaciduria 3-Methylglutaconicaciduria Type II 3-Methylglutaconicaciduria Type IIs MGA Type 2 MGA Type 2s Type 2, MGA Type 2s, MGA MGA Type II MGA Type IIs Type II, MGA Type IIs, MGA 3-Methylglutaconic Aciduria, Type II 3 Methylglutaconic Aciduria, Type II Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria

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Below are MeSH descriptors whose meaning is more specific than "Barth Syndrome".