Concept information
Nutritional and Metabolic Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Término preferido
Barth Syndrome
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- 3-Methylglutaconic Aciduria, Type II
- 3-Methylglutaconicaciduria Type 2
- 3-Methylglutaconicaciduria Type II
- Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
- MGA Type 2
- MGA Type II
En otras lenguas
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francés
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Acidurie 3-méthylglutaconique de type 2
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Acidurie 3-méthylglutaconique de type II
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Myopathie cardiosquelettique-neutropénie
URI
http://data.loterre.fr/ark:/67375/JVR-PKKTLP82-G
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