Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Cardiovascular Abnormalities
Heart Defects, Congenital
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Nutritional and Metabolic Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Preferred term
Barth Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- 3 Methylglutaconicaciduria Type 2
- 3-Methylglutaconicaciduria Type 2
- 3-Methylglutaconicaciduria Type 2s
- 3 Methylglutaconic Aciduria, Type II
- 3-Methylglutaconic Aciduria, Type II
- 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
- Type 2, 3-Methylglutaconicaciduria
- Type 2, MGA
- Type 2s, MGA
- Type II, MGA
- Type IIs, MGA
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
In other languages
-
Finnish
-
Barth
-
Barthin syndrooma
-
Swedish
URI
http://www.yso.fi/onto/mesh/D056889
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