Barth syndrome
ORPHA:111· ICD-10 E71.1
Definition
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Childhood