Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. The disease is MONDO_0010543 (Barth syndrome). Also known as: 3-Methylglutaconicaciduria type 2, 3-Methylglutaconicaciduria type II, 3-methylglutaconic aciduria type 2, BTHS, Barth syndrome, X-linked recessive, MGA type 2, MGA type II, MGA2.