Current and future treatment approaches for Barth syndrome

Barth Syndrome is an X‐linked disorder of mitochondrial cardiolipin metabolism caused by pathogenic variants in TAFAZZIN with pleiotropic effects including cardiomyopathy, neutropenia, growth delay, and skeletal myopathy. Management requires a multidisciplinary approach to the organ‐specific manifes...

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Veröffentlicht in:	Journal of inherited metabolic disease 2022-01, Vol.45 (1), p.17-28
Hauptverfasser:	Thompson, Reid, Jefferies, John, Wang, Suya, Pu, William T., Takemoto, Clifford, Hornby, Brittany, Heyman, Andrea, Chin, Michael T., Vernon, Hilary J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyltransferases - genetics Animals Barth syndrome Barth Syndrome - genetics Barth Syndrome - metabolism Barth Syndrome - therapy Bezafibrate Bezafibrate - therapeutic use Cardiolipin Cardiolipins - metabolism Cardiomyopathies - metabolism Cardiomyopathies - therapy Cardiomyopathy Clinical trials Clinical Trials as Topic Diphosphatidylglycerol Enzyme Therapy Gene therapy Genetic Therapy Hematology Humans Metabolism Mice Mitochondria Muscular Diseases - metabolism Muscular Diseases - therapy Myopathy Neutropenia Neutropenia - metabolism Neutropenia - therapy Oligopeptides - therapeutic use Peroxisome proliferator-activated receptors Peroxisome Proliferator-Activated Receptors - agonists TAFAZZIN
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