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