Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

NLM Logo

Barth Syndrome MeSH Descriptor Data 2026


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
C18.452.584.563.224
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 Introduced
2010/01/01
Last Updated
2021/06/30
Barth Syndrome Preferred
page delivered in 0.157s