Barth Syndrome
MESHD056889
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.
Synonyms
- Syndrome, Barth
- MGA Type 2
- MGA Type 2s
- Type 2, MGA
- Type 2s, MGA
- 3-Methylglutaconic Aciduria, Type II
- 3 Methylglutaconic Aciduria, Type II
- 3-Methylglutaconicaciduria Type 2
- 3 Methylglutaconicaciduria Type 2
- 3-Methylglutaconicaciduria Type 2s
- Type 2, 3-Methylglutaconicaciduria
- 3-Methylglutaconicaciduria Type II
- 3-Methylglutaconicaciduria Type IIs
- Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
- MGA Type II
- MGA Type IIs
- Type II, MGA
- Type IIs, MGA
Source last updated 2026-05-24T15:24:38.588Z