Barth syndrome
ICD-10 Code
E78.71
Barth syndrome
Definition
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Also known as 3-methylglutaconic aciduria type 2, Barth syndrome, Barth syndrome, X-linked recessive, BTHS, cardioskeletal myopathy with neutropenia and abnormal mitochondria, cardioskeletal myopathy-neutropenia syndrome, MGA2, X-linked cardioskeletal myopathy and neutropenia — per MONDO