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Barth Syndrome

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Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.

Also Known As:

MGA Type 2; 3 methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type 2s; 3-methylglutaconicaciduria type IIs; MGA type IIs; Syndrome, Barth; type 2, 3-methylglutaconicaciduria; type 2s, 3-methylglutaconicaciduria; type II, 3-methylglutaconicaciduria; type II, MGA; type IIs, 3-methylglutaconicaciduria; type IIs, MGA; 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II; MGA type II

Networked: 116 relevant articles (3 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neutropenia
2.	Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
3.	Muscular Diseases (Myopathy)
4.	Cardiomyopathies (Cardiomyopathy)
5.	Myotonic Dystrophy (Dystrophia Myotonica)

Experts

1.	Hatch, Grant M: 10 articles (04/2014 - 02/2004)
2.	Greenberg, Miriam L: 8 articles (04/2014 - 01/2004)
3.	Wanders, Ronald J A: 8 articles (09/2013 - 09/2002)
4.	Schlame, Michael: 8 articles (04/2012 - 05/2002)
5.	Steward, Colin G: 6 articles (09/2015 - 04/2009)
6.	Houtkooper, Riekelt H: 6 articles (02/2014 - 11/2008)
7.	Vaz, Frédéric M: 6 articles (02/2014 - 06/2005)
8.	Finsterer, Josef: 6 articles (11/2013 - 08/2003)
9.	Chen, Shuliang: 5 articles (02/2014 - 01/2004)
10.	Barth, Peter G: 5 articles (11/2013 - 09/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Barth Syndrome:

1.	Cardiolipins (Cardiolipin)IBA 01/17/2014 - "Importantly, preventing cardiolipin remodeling initiation in yeast lacking TAZ1, an ortholog of the causative gene in Barth syndrome, ameliorates mitochondrial dysfunction. " 09/01/2002 - "Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients." 09/01/2015 - "Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome." 03/01/2015 - "Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype." 04/01/2014 - "The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype."
2.	Reactive Oxygen Species (Oxygen Radicals)IBA 12/01/2015 - "Cells from Barth syndrome patients as well as several models of Barth have reduced mitochondrial functions including impaired electron transport chain function and increased reactive oxygen species (ROS) production. " 01/01/2013 - "Neutropenia in Barth syndrome is most likely due to reactive oxygen species induced exposure of phosphatidylserine, leading to increased clearance of neutrophils by tissue macrophages. "
3.	TEMPOIBA 01/01/2014 - "We conclude that mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes and suggest mito-Tempo as a potential therapeutic for Barth syndrome and other dilated cardiomyopathies resulting from mitochondrial oxidative stress. "
4.	Linoleic Acid (Linoleate)IBA 04/01/2009 - "In the heart, functional CL is linoleic acid rich, and the loss of linoleic acid content is associated with cardiac disorders including ischemia and reperfusion, heart failure, and diabetes, as well as the X-linked recessive disease, Barth syndrome. " 03/01/2003 - "The object of this study was to investigate whether the levels of cardiolipin in cultured skin fibroblasts of patients with Barth syndrome (BTHS) can be restored by addition of linoleic acid to growth media. " 03/01/2003 - "Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment." 01/01/2012 - "Expression of αTFP in Barth Syndrome lymphoblasts, which exhibit reduced tetralinoleoyl-CL, elevated linoleoyl-CoA acylation of MLCL to CL in vitro, increased mitochondrial respiratory Complex proteins and increased linoleate-containing species of CL. " 10/30/2009 - "Finally, expression of MLCL AT-1 in Barth syndrome lymphoblasts, which exhibit cardiolipin levels 20% that of normal lymphoblasts, increased mitochondrial monolysocardiolipin acyltransferase activity, [1-(14)C]linoleic acid incorporation into cardiolipin, cardiolipin mass, and succinate dehydrogenase (mitochondrial complex II) activity compared with mock-transfected Barth syndrome lymphoblasts. "
5.	Messenger RNA (mRNA)IBA 01/01/2014 - "This study characterizes the multiple alternative splice variants of TAZ mRNA and their proportions in blood samples from a cohort of individuals with Barth syndrome (BTHS). " 02/01/2008 - "The mRNA expression of the Barth syndrome gene TAZ, encoding a mitochondrial CL transacylase, was unaltered in 2-DG treated cells. " 01/01/2013 - "The identification of a TAZ gene mutation, mRNA analysis, and monolysocardiolipin/cardiolipin ratio determination were important for the diagnosis and genetic counseling in this family with atypical Barth syndrome that was not found to be associated with 3-methylglutaconic aciduria."
6.	monolysocardiolipinIBA 01/01/2009 - "The genetic disorder Barth syndrome (BTHS) is caused by mutations in the tafazzin gene resulting in decreased total CL levels, accumulation of monolysocardiolipin (MLCL), and decreased unsaturated fatty acyl species of CL. " 10/01/2006 - "Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome." 01/01/2014 - "This resynthesis of deacylated cardiolipin from monolysocardiolipin occurs via the Barth Syndrome gene product tafazzin and acyllysocardiolipin acyltransferase-1, monolysocardiolipin acyltransferase-1 and the alpha subunit of trifunctional protein. " 04/15/2009 - "Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome." 03/01/2006 - "Mutations in TAZ result in a decrease in tetra-linoleoyl species of cardiolipin and an accumulation of monolysocardiolipin within cells from Barth Syndrome patients. "
7.	Cyclic neutropeniaIBA 02/01/2013 - "Patients with Barth syndrome (BTHS), a rare X-linked disease, suffer from skeletal and cardiomyopathy and bouts of cyclic neutropenia. " 05/01/2012 - "Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. " 11/01/2008 - "Barth syndrome presents in infancy or childhood with cardiomyopathy, hypotonia, growth delays, and cyclic neutropenia. " 10/01/2006 - "Barth syndrome is an X-linked disorder with dilated cardiomyopathy, cyclic neutropenia and skeletal myopathy. " 09/01/2005 - "Barth syndrome is an X-linked disorder characterized by dilated cardiomyopathy, cyclic neutropenia, skeletal myopathy, abnormal mitochondria, and growth deficiency. "
8.	Proteins (Proteins, Gene)IBA 03/01/2006 - "The Barth Syndrome gene TAZ has been identified and expression of the gene yields proteins known as tafazzins. " 10/01/2004 - "Tafazzins, a group of proteins that are defective in patients with Barth syndrome, are produced by alternate splicing of the gene G4.5 or TAZ. " 03/01/2012 - "The ensuing alteration in the acyl chain profile of phospholipids has severe consequences on the function of organelles and membrane-bound proteins, and result in a host of pathologies including the cardiac disorder Barth Syndrome. " 01/01/2012 - "Expression of αTFP in Barth Syndrome lymphoblasts, which exhibit reduced tetralinoleoyl-CL, elevated linoleoyl-CoA acylation of MLCL to CL in vitro, increased mitochondrial respiratory Complex proteins and increased linoleate-containing species of CL. "
9.	Cataract and cardiomyopathyIBA 01/01/2015 - "Mutations in TAZ, SERAC1 and AGK affect mitochondrial phospholipid metabolism and cause Barth syndrome, MEGDEL and Sengers syndrome, respectively. " 01/01/2015 - "Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB). " 03/01/2015 - "A common mitochondrial cause for 3-methylglutaconic aciduria appears to be disruption of the architecture of the mitochondrial membranes, as in Barth syndrome (tafazzin deficiency), Sengers syndrome (acylglycerol kinase deficiency) and MEGDEL syndrome (impaired remodelling of the mitochondrial membrane lipids because of SERAC1 mutations). " 05/01/2013 - "(3) Muscular/cardiac presentations include recurrent myoglobinuria in phosphatidate phosphatase 1 (Lipin1) deficiency; cardiomyopathy and multivisceral involvement in Barth syndrome secondary to tafazzin mutations; congenital muscular dystrophy due to choline kinase deficiency, Sengers syndrome due to acylglycerol kinase deficiency and Chanarin Dorfman syndrome due to α/β- hydrolase 5 deficiency. "
10.	AMP Deaminase (Myoadenylate Deaminase)IBA 06/28/2006 - "So far, LVHT has been found in single patients with dystrophinopathy, dystrobrevinopathy, laminopathy, zaspopathy, myotonic dystrophy, infantile glycogenosis type II (Pompe's disease), myoadenylate-deaminase deficiency, mitochondriopathy, Barth syndrome, Friedreich ataxia, and Charcot-Marie-Tooth disease. " 11/01/2013 - "LVHT has been described in association with dystrophinopathies, myotonic dystrophies, zaspopathies, laminopathies, dystrobrevinopathies, oculopharyngeal muscular dystrophy, tropomyosin-1 mutations, multiminicore disease, Danon disease, mitochondrial disorders, myoadenylate deaminase deficiency, Pompe's disease, glycogen storage disease-IV, fatty acid oxidation disorder, Barth syndrome, ryanodine receptor mutation, inclusion body myopathy, dystrophic epidermolysis bullosa, Charcot-Marie-Tooth neuropathy, hereditary cobolamine deficiency, beta-thalassemia, poliomyelitis, and Friedreich ataxia. " 01/01/2000 - "CI has been found in Duchenne muscular dystrophy (MD), Becker MD, Emery-Dreifuss MD, facioscapulohumeral MD, sarcoglycanopathies, myotubular congenital MD, myotonic dystrophies type 1 and 2, proximal myotonic myopathy, myoadenylate deaminase deficiency, glycogenosis type II, III, IV, VII and IX, carnitine deficiency, mitochondriopathy, desmin MP, nemaline MP, central core disease, multicore MP, congenital fiber-type disproportion MP, Barth syndrome, McLeod syndrome and Bethlem MP. "

Therapies and Procedures

1.	Heart Transplantation (Grafting, Heart) 05/01/2007 - "We describe four patients with Barth syndrome who have undergone successful orthotopic heart transplantation. " 05/01/2007 - "Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients." 03/01/1997 - "We report a patient with Barth syndrome who underwent successful heart transplantation." 03/01/1997 - "Heart transplantation for Barth syndrome." 12/01/2012 - "Barth syndrome (BTHS) is associated with myocardial disease, frequently left ventricular noncompaction cardiomyopathy, which may necessitate cardiac transplantation or lead to death in some patients. "
2.	Mitral Valve Annuloplasty 10/01/2008 - "Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: first case report and determination of annular diameter."
3.	Transplants (Transplant) 03/01/2013 - "We present the case of a three-yr child with Barth syndrome who was bridged successfully to transplant with a Berlin Heart EXCOR assist device for eight months (251 days) without major infectious complication, despite several episodes of severe neutropenia. "
4.	Transplantation (Transplant Recipients) 12/01/2012 - "Left ventricular noncompaction cardiomyopathy in Barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation."