| Descriptor English: | Barth Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Barth
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| Descriptor Portuguese: | Síndrome de Barth | ||||||
| Descriptor French: | Syndrome de Barth | ||||||
| Entry term(s): |
3 Methylglutaconic Aciduria, Type II 3 Methylglutaconicaciduria Type 2 3-Methylglutaconic Aciduria, Type II 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type 2s 3-Methylglutaconicaciduria Type II 3-Methylglutaconicaciduria Type IIs Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria MGA Type 2 MGA Type 2s MGA Type II 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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| 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 |
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| RDF Unique Identifier: | https://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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2010 |
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| History Note: | 2010 |
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| Related: |
Isolated Noncompaction of the Ventricular Myocardium
MeSH | ||||||
| DeCS ID: | 53535 | ||||||
| Unique ID: | D056889 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2010/01/01 | ||||||
| Date of Entry: | 2009/07/06 | ||||||
| Revision Date: | 2012/07/03 |
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Barth Syndrome
- Preferred
| Concept UI |
M0529363 |
| 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. |
| Preferred term | Barth Syndrome |
| Entry term(s) |
3 Methylglutaconic Aciduria, Type II 3 Methylglutaconicaciduria Type 2 3-Methylglutaconic Aciduria, Type II 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type 2s 3-Methylglutaconicaciduria Type II 3-Methylglutaconicaciduria Type IIs Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria MGA Type 2 MGA Type 2s MGA Type II 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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