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

Preferred term

Barth Syndrome  

Type

  • mesh:Descriptor

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.

Broader concept

Related concepts

Entry terms

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

Allowable Qualifier(s)

In other languages

  • Syndrome de Barth

    French

  • Acidurie 3-méthylglutaconique de type 2
  • Acidurie 3-méthylglutaconique de type II
  • Myopathie cardiosquelettique-neutropénie

URI

http://data.loterre.fr/ark:/67375/JVR-PKKTLP82-G

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RDF/XML TURTLE JSON-LD Created 7/6/09, last modified 6/30/21