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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Barth Syndrome
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > Barth Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > Barth Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > Barth Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Barth Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Barth Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Barth Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Barth Syndrome

Preferred term

Barth Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • 3 Methylglutaconicaciduria Type 2
  • 3-Methylglutaconicaciduria Type 2
  • 3-Methylglutaconicaciduria Type 2s
  • 3 Methylglutaconic Aciduria, Type II
  • 3-Methylglutaconic Aciduria, Type II
  • 3-Methylglutaconicaciduria Type II
  • 3-Methylglutaconicaciduria Type IIs
  • Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
  • MGA Type 2
  • MGA Type 2s
  • MGA Type II
  • MGA Type IIs
  • Type 2, 3-Methylglutaconicaciduria
  • Type 2, MGA
  • Type 2s, MGA
  • Type II, MGA
  • Type IIs, MGA
  • [show all 17 values]

Scope note

  • 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.

History note

  • 2010

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URI

http://www.yso.fi/onto/mesh/D056889

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