Barth Syndrome
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.
Year introduced: 2010
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Tree 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, C18.452.584.563.224, C18.452.648.398.224
MeSH Unique ID: D056889
Entry Terms:
- Syndrome, Barth
- MGA Type 2
- MGA Type 2s
- Type 2, MGA
- Type 2s, MGA
- 3-Methylglutaconic Aciduria, Type II
- 3 Methylglutaconic Aciduria, Type II
- 3-Methylglutaconicaciduria Type 2
- 3 Methylglutaconicaciduria Type 2
- 3-Methylglutaconicaciduria Type 2s
- Type 2, 3-Methylglutaconicaciduria
- 3-Methylglutaconicaciduria Type II
- 3-Methylglutaconicaciduria Type IIs
- Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
- MGA Type II
- MGA Type IIs
- Type II, MGA
- Type IIs, MGA
See Also: