Barth Syndrome - [Support Group] This information is provided as a resource and does not constitute an endorsementfor any group. It is the responsibility of the reader to decide whether a http://www.bchealthguide.org/kbase/shc/shc29bar.htm
Extractions: var hwPrint=1;var hwDocHWID="shc29bar";var hwDocTitle="Barth Syndrome";var hwRank="1";var hwSectionHWID="shc29bar-Header";var hwSource="en-caQ2_05";var hwDocType="Shc"; This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. International. Founded 2000. The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp
Barth Syndrome Trust The BST website offers support to affected families and individuals as well as assisting scientists to make an accurate diagnosis of barth syndrome. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Barth Syndrome: Information From Answers.com barth syndrome barth syndrome is a rare genetic disorder classified by many signsand symptoms, including metabolism distortion, delayed motor. http://www.answers.com/topic/barth-syndrome
Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Barth syndrome Wikipedia Barth syndrome Barth syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. It affects at least fifty (~ 70) worldwide families. Today, two are known to live in Australia and a few dozen in the United States Canada , and Europe . More children can be undiagnosed, but it is recorded that fewer than 10 Barth Syndrome infants are born per year in the U.S. The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery. Quickfacts About Associated Protein: G4.5 / TAZ1 / BTHS -The BTHS gene is associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. -It is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa.
Entrez PubMed barth syndrome (BTHS) is a rare Xlinked recessive disorder characterized bycardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9
Kennedy Krieger Institute Barth Syndrome barth syndrome is a rare, sexlinked genetic disorder of lipid metabolism Typically, boys with barth syndrome present with hypotonia (low muscle tone) http://www.kennedykrieger.org/kki_diag.jsp?pid=2170
Extractions: helpful? yes no Barth syndrome is a very rare genetic disorder, which only affects males. The most serious problems in Barth syndrome are heart muscle weakness (see entry, Cardiomyopathy ) and increased susceptibility to bacterial infections. This susceptibility is caused by a reduction in the number of certain white blood cells, called neutrophils. Neutrophil numbers often vary with time in this condition and patients are said to have 'cyclical neutropenia.' Other features include short stature and muscle weakness, which can lead to fatigue or delayed motor development in early childhood. Analysis of urine usually shows increased quantities of certain organic acids (3-methylglutaconic and, sometimes, 2-ethylhydracrylic). The features of Barth syndrome vary between different families and even within the same family, but all patients develop cardiomyopathy within the first year. Typical early features are laboured breathing and poor feeding due to breathlessness ('heart failure'). Often the heart failure can be controlled by drug treatment but, in a few patients, heart transplantation may need to be considered. A few patients die suddenly, before they are diagnosed, perhaps due to a disturbance of the heart's rhythm. Other patients may die because of overwhelming infections. Barth syndrome is caused by mutations in a gene called G4.5. This gene is located on the X chromosome (Xq28). Ultimately, the genetic abnormality impairs the ability of cells to produce energy. At the cellular level, the problem is mediated by abnormalities in a protein called a tafazzin and by decreased production of a fat called cardiolipin.
Barth Syndrome barth syndrome Updated October 29, 2004 Glossary of Related Terms BarthSyndrome Foundation PDF File; Transitions barth syndrome Foundation PDF File http://www.noah-health.org/en/genetic/conditions/barth.html
Barth Syndrome - Wikipedia, The Free Encyclopedia barth syndrome is a rare genetic disorder classified by many signs and http//www.barthsyndrome.org/ barth syndrome Foundation, headed by Shelley Bowen http://en.wikipedia.org/wiki/Barth_syndrome
Extractions: Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Barth syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. It affects at least fifty (~ 70) worldwide families. Today, two are known to live in Australia and a few dozen in the United States Canada , and Europe . More children can be undiagnosed, but it is recorded that fewer than 10 Barth Syndrome infants are born per year in the U.S. The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery. Quickfacts About Associated Protein: G4.5 / TAZ1 / BTHS -The BTHS gene is associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. -It is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa.
Bmycharity - Barth Syndrome barth syndrome, it can be a very isolating and frightening experience.The barth syndrome Trust is dedicated to raising awareness about this disorder http://www.bmycharity.com/barthsyndrome
Barth Syndrome It is possible that the main title of the report barth syndrome is not the name you barth syndrome is transmitted as an Xlinked recessive trait. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord1116
Barth Syndrome barth syndrome BSF. The barth syndrome Foundation requests applications forfunding for research on the natural history, biochemical basis, and treatment http://vpr2.admin.arizona.edu/rso/02051509.htm
Extractions: BARTH SYNDROME - BSF The Barth Syndrome Foundation requests applications for funding for research on the natural history, biochemical basis, and treatment of Barth syndrome, an X-linked recessive, cardioskeletal myopathy associated with neutropenia, growth delay, and diverse biochemical abnormalities. Grants may be used as seed money for the testing of initial hypotheses and collection of preliminary data. Awards provide $10,000 to $40,000 for 1 or 2 years. Contact: Kate McCurdy, BSF, P.O. Box 618, Larchmont, NY 10538. E-mail: kmccurdy@barthsyndrome.org Web: http://www.barthsyndrome.org/links_research.htm Deadline: 30 June 2002 for letters of intent; 1 November 2002 for invited full applications. RSO Reference No.:
Barth Syndrome -- Facts, Info, And Encyclopedia Article barth syndrome is a rare (A disease or disorder that is inherited genetically)genetic External link. barth syndrome Foundation, headed by Shelley Bowen http://www.absoluteastronomy.com/encyclopedia/b/ba/barth_syndrome.htm
Extractions: Barth syndrome is a rare (A disease or disorder that is inherited genetically) genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. It affects at least fifty (~ 70) worldwide families. Today, two are known to live in (A nation occupying the whole of the Australian continent; aboriginal tribes are thought to have migrated from southeastern Asia 20,000 years ago; first Europeans were British convicts sent there as a penal colony) Australia and a few dozen in the (North American republic containing 50 states - 48 conterminous states in North America plus Alaska in northwest North America and the Hawaiian Islands in the Pacific Ocean; achieved independence in 1776) United States (A nation in northern North America; the French were the first Europeans to settle in mainland Canada) Canada , and (The 2nd smallest continent (actually a vast peninsula of Eurasia); the British use `Europe' to refer to all of the continent except the British Isles)
Extractions: Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Print View Titel Barth syndroom: bestudering van de rol van G4.5 gen producten in de celstofwisseling Abstract Aims: 1. To assess the precise function of the G4.5 gene. 2. To study in detail the effects of the defect in the cardiolipine and fosfatidylglycerol "remodeling" on mitochondrial function. 3. To study the localization of the G4.5 enzyme in the cell. 4. To examine whether it is possible to influence the fatty acid composition of cardiolipine in cells of patients by changing the composition of the culture medium. 5. To examine, by means of the already developed and partly available techniques, in a population of patients with unexplained defects in the mitochondrial function if the lipid metabolism is disturbed. Period Related organisations
Extractions: Titel Barth syndroom: bestudering van de rol van G4.5 gen producten in de celstofwisseling Abstract Aims: 1. To assess the precise function of the G4.5 gene. 2. To study in detail the effects of the defect in the cardiolipine and fosfatidylglycerol "remodeling" on mitochondrial function. 3. To study the localization of the G4.5 enzyme in the cell. 4. To examine whether it is possible to influence the fatty acid composition of cardiolipine in cells of patients by changing the composition of the culture medium. 5. To examine, by means of the already developed and partly available techniques, in a population of patients with unexplained defects in the mitochondrial function if the lipid metabolism is disturbed. Period Related organisations
VHA Guide - The Barth Syndrome Foundation barth syndrome is a rare but serious Xlinked genetic disorder predominantly Cardinal characteristics of barth syndrome include cardiomyopathy, http://www.nationalhealthcouncil.org/pubs/vha_guide/www.barthsyndrome.org.htm
Extractions: The Barth Syndrome Foundation, Inc. About the organization: The Barth Syndrome Foundation, Inc. (BSF) is a non-profit, volunteer organization that strives to save lives through education, advances in treatment and pursuit of a cure for Barth syndrome. The foundation works to insure that all appropriate physicians are aware of this multi-system disorder and have ready access to the latest information. BSF has a world-class Scientific Medical Advisory Board consisting of experts in various fields relevant to Barth syndrome. With their help, BSF initiated a research grant program one year after being incorporated. The foundation has awarded 14 grants so far to labs around the world. These have supported work on the underlying biochemistry and genetics of the disorder as well as the creation of animal models, collection of phenotypic data and insights into disease mechanisms. At BSF, we are resolute providing information to our families and physicians in a timely manner. Because the majority of our most active volunteers are "seasoned" families and physicians, we are empathetic to our members' needs. BSF thrives on the synergy and accelerated progress that comes from collaboration between families and scientists. We encourage family participation in research. Additionally, we offer several vehicles to keep our constituents informed about advances in science and medicine.
IDR Factfile For Barth Syndrome NINDS barth syndrome Information Page, National Institute of Neurological Disordersand Stroke. , barth syndrome, National Organization for Rare Disorders http://dna.uta.fi/xml/idr/FF134.xml
Extractions: General information Disease Barth syndrome Alternative names: BTHS; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; 3 methyl glutaconic aciduria, type II; MGA, type II Description Defects in tafazzin (TAZ) are the cause of Barth syndrome (BTHS). BTHS is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia. Presentation can be slowly progressive or sudden. Classification Inheritance X-linked OMIM Barth syndrome; BTHS Cardiomyopathy, dilated, 3A; CMD3A Tafazzin; TAZ Incidence Incidence is not known. Clinical information Description Patients have congestive heart failure, symptomatic before one year of age, neutropenia (chronic, cyclic, or intermittent), muscle hypoplasia and weakness, failure to thrive and growth retardation, 3-methyl-glutaconic aciduria, cardiolipin deficiency. The consequences of neutropenia may be severe (septicemia in newborns) or less dramatic with bacterial skin infections and oral aphtous lesions. Other important clinical problems are frequent diarrhea, recurrent aphtous ulcers, hypoglicemia, osteoporosis, chronic headache and body aches, especially during puberty, extreme fatigue, feeding problems, mild learning disabilities, high incidence of minor congenital malformations. Diagnosis Diagnostic recommendations: ESID/PAGID recommendations by IDR Additional Information: Barth syndrome, ORHANET
Extractions: most recent Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Valianpour, F. Articles by Vaz, F. M. Submitted on February 14, 2005
Extractions: most recent Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Valianpour, F. Articles by Vaz, F. M. Journal of Lipid Research, Vol. 46, 1182-1195, June 2005 American Society for Biochemistry and Molecular Biology Fredoen Valianpour Voula Mitsakos Dimitri Schlemmer Jeffrey A. Towbin Juliet M. Taylor Paul G. Ekert David R. Thorburn Arnold Munnich Ronald J. A. Wanders Peter G. Barth and Laboratory of Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
