Barth syndrome
What is Barth syndrome?
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Other condition names
- 3-methylglutaconic aciduria type 2
- BTHS
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- Cardioskeletal myopathy-neutropenia syndrome
- MGA2
- X-linked cardioskeletal myopathy and neutropenia
Inheritance type
X-linked recessive
Prevalence
- Europe: 1-9 in 1,000 000
Age of Onset
- Childhood
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