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Cardiolipin metabolism and Barth Syndrome
Progress in Lipid Research, 2006Many advances have occurred in the field of Barth Syndrome biology in the 26 years since it was first described as an X-linked cardiomyopathy. Barth Syndrome is the first human disease recognized in which the primary causative factor is an alteration in cardiolipin remodeling. Cardiolipin is required for the optimal function of many proteins within the
Kristin D, Hauff, Grant M, Hatch
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Barth syndrome in a female patient
Molecular Genetics and Metabolism, 2012BACKGROUND: Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin.
Cosson, Laure +11 more
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Barth Syndrome and Neutropenia
Blood, 2013Abstract Barth syndrome is an X-linked, hereditary cause for neutropenia, cardiomyopathy, muscle weakness and growth retardation. It is attributable to mutations of TAZ, a gene encoding a highly conserved acyltransferase necessary for the maintenance of the phospholipids of the inner layers of mitochrondrial membranes.
David C. Dale +5 more
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Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome
Annals of Neurology, 2002AbstractBarth syndrome is an X‐linked cardiac and skeletal mitochondrial myopathy. Barth syndrome may be due to lipid alterations because the product of the mutated gene is homologous to phospholipid acyltransferases. Here we document that a single mitochondrial phospholipid species, tetralinoleoyl‐cardiolipin, was lacking in the skeletal muscle (n = 2)
Michael, Schlame +5 more
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Cardiac and Clinical Phenotype in Barth Syndrome
Pediatrics, 2006OBJECTIVE. Barth syndrome, an X-linked disorder that is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria.
Carolyn T, Spencer +8 more
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European Journal of Pediatrics, 2011
Barth syndrome (OMIM #302060) (BTHS) is an X-linked disorder of lipid metabolism characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ), which lead to decreased production of an enzyme required to produce cardiolipin, a component of the inner mitochondrial membrane ...
Atsuhito, Takeda +6 more
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Barth syndrome (OMIM #302060) (BTHS) is an X-linked disorder of lipid metabolism characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ), which lead to decreased production of an enzyme required to produce cardiolipin, a component of the inner mitochondrial membrane ...
Atsuhito, Takeda +6 more
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Barth syndrome without 3‐methylglutaconic aciduria
Acta Paediatrica, 2004Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3‐methylglutaconic (3‐mgc) aciduria. 3‐mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. Conclusion: A case of confirmed BTHS, but without 3‐mgc aciduria, emphasizes the importance of extensive investigations in cases with ...
Schmidt, M Rahbek +3 more
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Clinical presentation and natural history of Barth Syndrome: An overview
Journal of Inherited Metabolic Disease, 2022Carolyn Taylor +2 more
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AAV Gene Therapy Prevents and Reverses Heart Failure in a Murine Knockout Model of Barth Syndrome
Circulation Research, 2020Suya Wang, Yifei Li, Yang Xu
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