Orphanet: Barth syndrome

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Barth syndrome

Disease definition

Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.


Classification level: Disorder
  • Synonym(s):
    • 3-methylglutaconic aciduria type 2
    • BTHS
    • Cardioskeletal myopathy with neutropenia and abnormal mitochondria
    • Cardioskeletal myopathy-neutropenia syndrome
    • MGA2
    • X-linked cardioskeletal myopathy and neutropenia
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: E71.1
  • OMIM: 302060
  • UMLS: C0574083
  • MeSH: D056889
  • GARD: 5890
  • MedDRA: -
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