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Barth syndrome [PDF]

Orphanet Journal of Rare Diseases, 2013
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA ...
Clarke Sarah LN, Bowron Ann, Gonzalez Iris L, Groves Sarah J, Newbury-Ecob Ruth, Clayton Nicol, Martin Robin P, Tsai-Goodman Beverly, Garratt Vanessa, Ashworth Michael, Bowen Valerie M, McCurdy Katherine R, Damin Michaela K, Spencer Carolyn T, Toth Matthew J, Kelley Richard I, Steward Colin G   +16 more
doaj   +9 more sources

Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis. [PDF]

PLoS ONE, 2015
Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation.
Laurence C Cadalbert, Farah Naz Ghaffar, David Stevenson, Sheila Bryson, Frédéric M Vaz, Eyal Gottlieb, Douglas Strathdee   +6 more
doaj   +14 more sources

Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome [PDF]

Frontiers in Pediatrics, 2023
BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria.
Nicola Tovaglieri, Silvia Russo, Emanuele Micaglio, Angela Corcelli, Simona Lobasso   +4 more
doaj   +2 more sources

Barth Syndrome Cardiomyopathy: An Update. [PDF]

Genes (Basel), 2022
Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase/transacylase required for cardiolipin (CL) biosynthesis. Cardiomyopathy is a major clinical feature of BTHS.
Pang J, Bao Y, Mitchell-Silbaugh K, Veevers J, Fang X.   +4 more
europepmc   +3 more sources

Barth Syndrome: Psychosocial Impact and Quality of Life Assessment [PDF]

Journal of Cardiovascular Development and Disease, 2022
Background: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has ...
Anandbir Bath, Oguz Akbilgic, David Wilbanks, Jay Patel, Morgan Wallen, Shereen Haji, Arnab Das, John Alexander, Issa Pour-Ghaz, Deya Alkhatib, Yonglin Huang, Erik Lontok, John Jefferies   +12 more
doaj   +2 more sources

Experimental models of Barth syndrome. [PDF]

J Inherit Metab Dis, 2022
AbstractMutation of the gene Tafazzin (TAZ) causes Barth syndrome, an X‐linked disorder characterized by cardiomyopathy, skeletal muscle weakness, and neutropenia. TAZ is an acyltransferase that catalyzes the remodeling of cardiolipin, the signature phospholipid of the inner mitochondrial membrane. Here, we review the major model systems that have been
Pu WT.
europepmc   +3 more sources

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome [PDF]

Molecular Therapy: Methods & Clinical Development, 2019
Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano, Madhurima Saha, Meghan S. Soustek, Peter B. Kang, Barry J. Byrne, W. Todd Cade, Christina A. Pacak   +6 more
doaj   +3 more sources

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome [PDF]

Frontiers in Cardiovascular Medicine
BackgroundBarth syndrome is an X-linked disorder characterised by cardiomyopathy, growth abnormalities, neutropenia, and 3-methylglutaconic aciduria. It is caused by pathogenic variants in TAFAZZIN, which encodes a mitochondrial protein essential for ...
Emma S. Singer, Emma S. Singer, Janine Smith, Janine Smith, Janine Smith, Richard Lin, Richard Lin, Ansley M. Morrish, Ansley M. Morrish, Sean Lal, Claire Irving, Claire Irving, Charlene Casey, Ingrid King, Robert G. Weintraub, Robert G. Weintraub, Robert G. Weintraub, Richard D. Bagnall, Richard D. Bagnall   +18 more
doaj   +2 more sources

Myocardial disturbances of intermediary metabolism in Barth syndrome [PDF]

Frontiers in Cardiovascular Medicine, 2022
Barth Syndrome (BTHS) is a rare X-linked mitochondrial disorder due to mutations in the gene TAFAZZIN, which leads to immature cardiolipin (CL) remodeling and is characterized by the development of cardiomyopathy.
Amanda A. Greenwell, Amanda A. Greenwell, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, John R. Ussher, John R. Ussher   +5 more
doaj   +2 more sources

Quality of life in Barth syndrome. [PDF]

Ther Adv Rare Dis, 2022
Introduction: Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities, and skeletal myopathy. There have been few studies investigating health-related quality of life (HRQoL) in this population.
Kim AY, Vernon H, Manuel R, Almuqbil M, Hornby B.   +4 more
europepmc   +3 more sources