/Barth syndrome

Barth syndrome

Rare Disease

MONDO:0010543

Also Known As

3-Methylglutaconicaciduria type 23-Methylglutaconicaciduria type II3-methylglutaconic aciduria type 2BTHSBarth syndromeBarth syndrome, X-linked recessiveMGA type 2MGA type IIMGA2X-linked cardioskeletal myopathy and neutropeniacardioskeletal myopathy with neutropenia and abnormal mitochondriacardioskeletal myopathy-neutropenia syndrome3-Methylglutaconic aciduria, type 23-methylglutaconic aciduria type IIBARTH syndromeMga, type 2TAZ defect

Definition

Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.