Structured Summary
Abstract
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.
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Synonyms
18 entry terms
- 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
- 3 Methylglutaconic Aciduria, Type II
- 3 Methylglutaconicaciduria Type 2
- 3-Methylglutaconicaciduria Type 2s
- 3-Methylglutaconicaciduria Type IIs
- MGA Type 2s
- MGA Type IIs
- Syndrome, Barth
- Type 2, 3-Methylglutaconicaciduria
- Type 2, MGA
- Type 2s, MGA
- Type II, MGA
- Type IIs, MGA
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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History Note
2010
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References
- National Library of Medicine. Barth Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D056889. http://id.nlm.nih.gov/mesh/2026/D056889
- Barth Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Barth_syndrome
- Barth Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q928424