NINDS Barth Syndrome Information Page barth syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). More about barth syndrome, http://www.ninds.nih.gov/health_and_medical/disorders/barth.htm
Extractions: Barth syndrome is a rare congenital metabolic and neuromuscular disorder that affects boys. It is passed from mother to son through the sex-linked, or X, chromosome. Symptoms affect multiple systems of the body and may include changes to metabolism, motor delays, hypotonia (reduced muscle tone), delayed growth, cardiomyopathy (leading to a poorly functioning heart), weakened immune system, chronic fatigue, lack of stamina, hypoglycemia (low blood sugar), mouth ulcers, diarrhea, and varying degrees of physical and learning disability. Boys with the disorder also have fewer white blood cells (a condition called neutropenia), which may lead to an increased risk for serious bacterial infections. Barth syndrome affects at least 50 families worldwide, but there is evidence that it is underdiagnosed. On average 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will have symptoms. All daughters born to an affected male will be carriers.
Barth The Complete barth syndrome Homepage. Introduction. Commonly Asked Questions Comprehensive History of barth syndrome. Additional Website Links http://www.csun.edu/~hcbio033/barth.html
Barth Syndrome - X-linked Cardiomyopathy And Neutropenia An article about barth syndrome with a description, clinical manifestations, etiology, epidemiology, diagnosis, prognosis and management. http://www.med.jhu.edu/CMSL/Barth_Summary.html
Extractions: Barth Syndrome - X-linked Cardiomyopathy and Neutropenia Richard I. Kelley, MD, PhD Division of Metabolism, Kennedy Krieger Institute Department of Pediatrics, Johns Hopkins Medical Institutions History and Overview or " TAZ, " mutations in Barth syndrome was further supported by the finding of disabling mutations of TAZ in 14 additional Barth syndrome families [Johnston et al, 1997]. The recognition of homology of TAZ Clinical Manifestations TAZ Genetic and Molecular Pathology TAZ mutations that yield different effects in different tissues. However, in a detailed study of 14 Barth syndrome families, there was no evident phenotype-genotype correlation [Johnston et al, 1997]. To date, more than 50 different mutations in the TAZ gene have been found, of which 60% are frame-shift, stop, or splice-site mutations predicted to disrupt completely the function of the Barth proteins. Another 30% lead to a change in the charge of the protein. A substantial fraction of the mutations are de novo mutations, in a proportion not inconsistent with the one-third new mutation rate predicted for X-linked recessive diseases (Haldane fraction) (I. Gonzales, R. Kelley, unpublished). Epidemiology Differential Diagnosis Diagnostic Evaluation Prognosis and Complications Management Literature Cited Ades LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. 1993. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 45:327-334.
Welcome To The Barth Syndrome Web Site The (BSF) website offers support to affected families and individuals as well as assisting scientists to make an accurate diagnosis of barth syndrome. http://www.barthsyndrome.org/
Extractions: Welcome Click here to search my site Welcome to the official Barth Syndrome Foundation. If you are new to the BSF or to Barth Syndrome, please follow the links at the left to find your way to a wealth of information on this rare condition and the Barth Syndrome Foundation. What's New Watch this section for links to new items on the site. It's almost time for the 2004 BSF Conference Time is short since the conference is not far away now. The agenda for the conference will give you a great idea of all that there is to learn and do. The Coronado Springs Resort in Orlando, Florida is a terrific location. There's not a moment to lose. Book your calendars for July 8-12, 2004 Register for the family conference Register for the Scientific and Medical conference Hotel rooms need to be reserved by June 7. Registering for the conference does not book your room. Please see
NORD - National Organization For Rare Disorders, Inc. General Discussion. barth syndrome is a genetic disorder that appears to occur exclusively in males. Although barth syndrome typically becomes apparent during infancy or http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth Syndrom
Welcome To The Barth Syndrome Web Site The (BSF) website offers support to affected families and individuals as well as assisting scientists to make an accurate diagnosis of barth syndrome. An informative site dedicated to Barth About http://www.barthsyndrome.com/
Extractions: Welcome Click here to search my site Welcome to the official Barth Syndrome Foundation. If you are new to the BSF or to Barth Syndrome, please follow the links at the left to find your way to a wealth of information on this rare condition and the Barth Syndrome Foundation. What's New Watch this section for links to new items on the site. It's almost time for the 2004 BSF Conference Time is short since the conference is not far away now. The agenda for the conference will give you a great idea of all that there is to learn and do. The Coronado Springs Resort in Orlando, Florida is a terrific location. There's not a moment to lose. Book your calendars for July 8-12, 2004 Register for the family conference Register for the Scientific and Medical conference Hotel rooms need to be reserved by June 7. Registering for the conference does not book your room. Please see
NINDS - News And Events Health. Sorry! There are no press releases for barth syndrome. Use your browser s Back button to return to your previous activity. http://www.ninds.nih.gov/health_and_medical/news.htm?url=/health_and_medical/dis
Major Aspects Of Growth In Children (MAGIC) An organization providing support and education regarding growth disorders in children and related adult disorders. Includes Growth Hormone Deficiency, barth syndrome, Congenital Adrenal Hyperplasia, Precocious Puberty, RussellSilver Syndrome, Turner Syndrome, Thyroid Disorders Septo Optic Dysplasia, McCune-Albright Syndrome, and Rare Disorder/Hypophosphatasia. http://www.magicfoundation.org/
Barth Syndrome Clinical Mass Spectrometry Laboratory. Kennedy Krieger Institute. 707 North Broadway. Baltimore, Maryland 21205. barth syndrome (Xlinked Cardiomyopathy). http://www.hopkinsmedicine.org/cmsl/Barth_Syndrome.html
Barth Syndrome Foundation Kennedy Krieger Institute 707 North Broadway. Baltimore, Maryland 21205. barth syndrome Foundation For information about the barth syndrome Foundation contact http://www.hopkinsmedicine.org/cmsl/Barth_Family.html
About Barth Syndrome The (BSF) website offers support to affected families and individuals as well as assisting scientists to make an accurate diagnosis of barth syndrome. An informative site dedicated to Barth Barth http://www.barthsyndrome.com/home.html
Extractions: Weakness in the immune system, specifically a reduction in the number of "neutrophils", a type of white blood cell that is most important for fighting bacterial infections. Neutropenia places Barth boys at an increased risk of acquiring serious infections such as bacterial pneumonia and skin abscesses Most boys with Barth syndrome are also below-average in weight and height, often substantially so. The poor growth of Barth boys is often assumed to be evidence of poor nutrition or other secondary effects of a chronic illness, a situation termed "failure to thrive". This is rarely the cause, and the common nutritional treatments for failure to thrive usually not needed, and in some cases contra-indicated for Barth syndrome children.
Questions Commonly Asked Questions. Who first described barth syndrome? He and his colleagues are credited with first describing the features of barth syndrome in 1981. http://www.csun.edu/~hcbio033/Questions.html
Extractions: Commonly Asked Questions Who first described Barth Syndrome? Barth Syndrome is named after Dr. P.G. Barth who is affiliated with Emma Children's Hospital/University of Amsterdam Academic Medical Center in Amsterdam, Netherlands. He and his colleagues are credited with first describing the features of Barth Syndrome in 1981. The description of the phenotype (signs and symptoms) of Barth Syndrome was expanded by Dr. Richard I. Kelley at the Kennedy Krieger Institute in Baltimore, Maryland, who first described the excess excretion of certain organic acids in the urine of patients with Barth Syndrome. And the G4.5 gene was located and sequenced in 1996 by Silvia Bione et al. at the Institute of Genetics, Biochemistry and Evolution in Pavia, Italy. How common is Barth Syndrome? This disease is thought to be very rare. However, as is often the case with rare disorders, increased awareness of the disorder among medical practitioners and the public may lead to increased reports of its incidence. Since so little is known about Barth Syndrome at the biochemical and molecular level, it is possible that many cases go undetected. At present, there are known to be two families with affected family members in Australia, and a few dozen in the United States, Canada, and Europe. A recent paper from England found 5 new boys with Barth syndrome in one hospital in 7 years. They speculate that Barth is underdiagnosed and are conducting a frequency study (See Cantlay, et. al. J. Pediatr. 1999;135(3):311-315).
Extractions: Web Directory: Barth Syndrome Foundation Promotes knowledge about this disease among families, physicians and scientists, serving as a focal point for data and research for scientists. The group offers support to families learning to cope with the disorder. Clinical Mass Spectrometry Laboratory An article about Barth Syndrome with a description, clinical manifestations, etiology, epidemiology, diagnosis, prognosis and management.
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://www.barthsyndrome.org.uk/
Barth Syndrome The heart diseases the Pediatric Cardiology Research Laboratories are currently investigating are ARVD, barth syndrome, brugada, syndome, dilated cardiomyopathy http://www.bcm.tmc.edu/pedi/cardio/research/barthsyndrome.html
Extractions: Pediatric Cardiology Lab Home BCM Public Site BCM Intranet :. Barth Syndrome .: What is Barth Syndrome : : How common is Barth Syndrome : .: What are the causes of Barth Syndrome :. Initially described as X-linked cardioskeletal myopathy with abnormal mitochondria and neutropenia (low white blood count), this disorder typically presents in male infants as CHF associated with neutropenia and 3-methylglutaconic aciduria. Mitochondrial dysfunction is noted on EM and electron transport chain biochemical analysis. Echocardiographically these infants typically have left ventricular dysfunction with left ventricular dilation, endocardial fibroelastosis (EFE), or a dilated hypertrophic left ventricle. In some cases these infants succumb due to CHF/sudden death or sepsis due to white blood cell dysfunction. The majority of these children survive infancy and do well clinically, although dilated cardiomyopathy (DCM) usually persists. In some cases, cardiac transplantation has been performed. Histopathologic evaluation typically demonstrates the features of DCM, although EFE may be prominent and the mitochondria are abnormal in shape and abundance.
Barth Syndrome barth syndrome is a genetic disorder that appears to occur exclusively in males. National Organization for Rare Disorders, Inc. barth syndrome. http://www.bchealthguide.org/kbase/nord/nord1116.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Barth syndrome is a genetic disorder that appears to occur exclusively in males. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course may vary considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils) that help to fight bacterial infections (known as neutropenia); and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, particularly 3-methylglutaconic acid (3-methylglutaconic aciduria/acidemia).
Barth Syndrome barth syndrome Important It is possible that the main title of the report barth syndrome is not the name you expected. Please check http://my.webmd.com/hw/health_guide_atoz/nord1116.asp
Extractions: Barth syndrome is a genetic disorder that appears to occur exclusively in males. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course may vary considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils) that help to fight bacterial infections (known as neutropenia); and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, particularly 3-methylglutaconic acid (3-methylglutaconic aciduria/acidemia).
Health Library - barth syndrome. Synonyms Disorder Subdivisions General Discussion Resources barth syndrome is a genetic disorder that appears to occur exclusively in males. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw
Kennedy Krieger Institute Barth Syndrome KKI Logo. Print this page. barth syndrome. barth syndrome is a rare, sexlinked genetic disorder of lipid metabolism that affects males. http://www.kennedykrieger.org/kki_diag.jsp?pid=2170
