Barth Syndrome

Barths syndrom

Engelsk definition

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.

Svenska synonymer

MGA-typ 2

Engelska synonymer

Syndrome, Barth 3-Methylglutaconicaciduria Type 2 3 Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type 2s Type 2, 3-Methylglutaconicaciduria 3-Methylglutaconicaciduria Type II 3-Methylglutaconicaciduria Type IIs MGA Type 2 MGA Type 2s Type 2, MGA Type 2s, MGA MGA Type II MGA Type IIs Type II, MGA Type IIs, MGA 3-Methylglutaconic Aciduria, Type II 3 Methylglutaconic Aciduria, Type II Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria