Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

Concept information

Terme préférentiel

Barth Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Synonyme(s)

  • 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

Traductions

  • français

  • 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

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 06/07/2009, dernière modification le 30/06/2021