Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Barth Syndrome

  • Persio Roxo-JuniorEmail author
  • Isabela Mina
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_156-1


Barth syndrome (synonyms: X-linked cardioskeletal myopathy, neutropenia and abnormal mitochondria, 3-methylglutaconic aciduria type II, endocardial fibroelastosis type 2), is a mitochondrial disease (Rezaei et al. 2009; Imai-Okazaki et al. 2018) that presents phenotypic and allelic heterogeneity (Imai-Okazaki et al. 2018). This syndrome is characterized by neutropenia, dilated cardiomyopathy, hypocholesterolemia, aciduria, skeletal myopathy, growth retardation, and cognitive impairment (Rezaei et al. 2009; Imai-Okazaki et al. 2018; Jefferies 2013).

The syndrome was firstly described by Barth et al. in a large Dutch family.


Barth syndrome is an X-linked recessive disease generally caused by mutations in the TAZ gene (Rezaei et al. 2009; Imai-Okazaki et al. 2018; Jefferies 2013), which encodes the tafazzin protein. Tafazzin is a phospholipid acyltransferase that is involved in remodeling cardiolipin, which is necessary to maintain mitochondrial structure.


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© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.Division of Immunology and Allergy, Department of Pediatrics, Ribeirão Preto Medical SchoolUniversity of São PauloRibeirão PretoBrazil

Section editors and affiliations

  • Antonio Condino-Neto
    • 1
  1. 1.Institute of Biomedical SciencesUniversity of São PauloSão PauloBrasil