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Barth Syndrome MeSH Descriptor Data 2021


MeSH Heading
Barth Syndrome
Tree Number(s)
C14.240.400.172
C14.280.400.172
C16.131.077.121
C16.131.240.400.172
C16.320.322.068
C16.320.565.398.224
C18.452.648.398.224
Unique ID
D056889
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056889
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.
Entry Term(s)
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
See Also
Isolated Noncompaction of the Ventricular Myocardium
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2012/07/03
Barth Syndrome Preferred
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