Definition
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.
Introduction
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.
The...
References
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Roxo-Junior, P., Mina, I. (2018). Barth Syndrome. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_156-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_156-1
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