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


  • Europe: 1-9 in 1,000 000

Age of Onset

  • Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "". Data version 1.3.16 / 4.1.7.