Barth Syndrome
Synonyms
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
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.