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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

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