MeSH Descriptor
Source: MeSH 2021 deskriptory
Main Heading
Barthův syndrom
English Heading
Barth Syndrome
See
3-metylglutakonová acidurie typu 2
3-metylglutakonová acidurie typu II
MGA typu 2
MGA typu II
See
MGA Type 2 [T751310]
3-Methylglutaconic Aciduria, Type II [T822999]
3-Methylglutaconicaciduria Type 2 [T823000]
3-Methylglutaconicaciduria Type II [T823001]
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria [T823002]
MGA Type II [T824084]
Related Descriptors
Preferred Concept
Mesh Scope Translators Note
Vzácná vrozená porucha metabolismu lipidů. Syndrom je recesivně dědičný, vázaný na chromozom X. Je charakterizovaný svalovou slabostí, růstovou retardací, dilatační kardiomyopatií, neutropenií, 3-metylglutakonovou acidurií (typu II) a sníženou hladinou mitochondriálních kardiolipinů. K příznakům patří ještě další biochemické a morfologické mitochondriální abnormality.
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
Public Note
2010
Record number
D056889
Persistent link
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