21. Cardiac + Myopathy; Cardiomyopathy Myofibrillar myopathy (ARVC) barth syndrome Tafazzins; Xq28 Barthlike syndrome mtRNA Leu Dilated cardiomyopathy (Isolated) 1q32; 9q13; 10q22 http://www.neuro.wustl.edu/neuromuscular/msys/cardiac.html

Front Search Index Links ... Patient Info CARDIAC + MYOPATHY Amyloid Cardiomyopathies Dilated Hypertrophic Isolated Carnitine Disorders ... Drugs Dystrophies Barth Desmin Dystrophinopathies Emery-Dreifuss ... Acid Maltase (Infantile) Branching enzyme Debrancher Lamp-2 Triosephosphate isomerase ... SRP Also see: Selective disorders of cardiac muscle Carnitine Disorders Biochemistry Fatty acid oxidation pathways General principles Multiple acyl–CoA dehydrogenase deficiency Reduced Muscle carnitine uptake ... CPT II deficiency Carnitine Carnitine metabolism: General principles Carnitine Source Dietary 75% Distribution: 90% in muscle Fatty acids are transported from cytoplasm to mitochondria Conversion of fatty acids to Fatty acid-CoA Mitochondrial oxidation of fatty acids provides energy source Chief energy sources for: Prolonged fasting; Skeletal muscle during exercise; Cardiac muscle Types of deficiency Primary: Due to deficient transport of carnitine into cells Secondary Free carnitine acyl-carnitine esters Lost in urine Loss of carnitine results in Reduced Buffering of toxic acyl-CoA esters Inhibition of mitochondrial systems Clinical features: General Coma after a period of starvation Hypoketosis: Low serum ketone concentrations Cardiomyopathy Muscle weakness Specific enzyme defects can include LCAD MCAD Plasma-membrane carnitine transporter Carnitine palmitoyltransferase I (CPT I) CPT II deficiency SCAD deficiency : 2 phenotypes Carnitine deficiency: Myopathic Form l ? Autosomal Recessive

22. Barth Syndrome Information Diseases Database barth syndrome,CardiomyopathyNeutropenia syndrome,3-Methylglutaconic aciduria type 2, Disease Database Information. http://www.diseasesdatabase.com/ddb29297.htm

Diseases Database Index Sponsors Contact ... Previous Page Barth syndrome Information Search 3 synonyms or equivalents were found. Barth syndrome aka/or Cardiomyopathy-Neutropenia syndrome aka/or 3-Methylglutaconic aciduria type 2 may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) No UMLS definitions Barth syndrome: specific sites Send Barth syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 09:26:24 Metadata Updated 2004-05-22

23. BARTH SYNDROME (OMIM 302060) United Kingdom barth syndrome (OMIM 302060) United Kingdom. symptoms useful links medical literature on barth syndrome. International conference about barth syndrome. http://www.wapenveld.com/BarthSyndroom/unitedkingdom.html

update questions? contact us! Barth Syndrome (OMIM 302060) United Kingdom symptoms useful links medical literature on Barth Syndrome International conference about Barth Syndrome The next international conference about Barth Syndrome will take place in Baltimore, Maryland, Unites States, at October 18-22, 2002. This conference will be organized by the Barth Syndrome Foundation Inc. in co-operation with the Kennedy Krieger Institute of the Johns Hopkins University. More information at www.barthsyndrome.org Symptoms Barth Syndrome is a rare but serious genetic disorder, that affect males. The characteristics (signs and symptoms) of Barth Syndrome consist of the following in varying degrees: Neutropenia ... www.barthsyndrome.org American site about Barth Syndrome and the Barth Syndrome Foundation Inc. www.bhf.org.uk British Heart Foundation www.cardiomyopathy.org were useful in helping a family get travel insurance for a Barth boy, that didn't exclude all pre-existing conditions. www.geneticalliance.org www.cafamily.org.uk contact a family for people with children who have a disability of any kind www.gig.org.uk

24. Barth Syndrome,X-linked Cardiomyopathy And Neutropenia,Cardiomyopathy-Neutropeni barth syndrome,Xlinked Cardiomyopathy and Neutropenia,Cardiomyopathy-Neutropenia Syndrome,barth syndrome,X-linked Cardiomyopathy and Neutropenia,Cardiomyopathy http://www.icomm.ca/geneinfo/barth.htm

Barth Syndrome,X-linked Cardiomyopathy and Neutropenia,Cardiomyopathy-Neutropenia Syndrome,Barth Syndrome,X-linked Cardiomyopathy and Neutropenia,Cardiomyopathy-Neutropenia Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Barth Syndrome also known as: X-linked Cardiomyopathy and Neutropenia Cardiomyopathy-Neutropenia Syndrome To view the definitions click on each of the following links or just scroll down. As defined at Barth Syndrome Foundation NINDS Johns Hopkins Medical (as defined at http://www.barthsyndrome.org/home.html Barth Syndrome is a rare but serious genetic disorder that affects males. The characteristics (signs and symptoms) of Barth Syndrome consist of the following in varying degrees: Neutropenia 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. Cardiomyopathy Heart muscle weakness. This, combined with a weakened immune system, represents the greatest threat to boys with Barth syndrome.

25. Alpers Disease,Progressive Infantile Poliodystrophy,Barth Syndrome,Cardiomyopath Alpers Disease,Progressive Infantile Poliodystrophy,barth syndrome,CardiomyopathyNeutropenia Syndrome/Lethal Infantile Cardiomyopathy,LIC,Beta-oxidation http://www.icomm.ca/geneinfo/mitoch.htm

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Mitochondrial Disorders Alpers Disease (Progressive Infantile Poliodystrophy) Barth syndrome (Cardiomyopathy-Neutropenia Syndrome) / Lethal Infantile Cardiomyopathy (LIC) Beta-oxidation Defects Carnitine Deficiency and Disorders Chronic Progressive External Ophthalmoplegia Syndrome (CPEO) Kearns-Sayre Syndrome (KSS) Lactic Acidosis; Leber Hereditary Optic Neuropathy (LHON) Leigh's Disease (Subacute Necrotizing Encephalomyelopathy) Long-Chain Acyl-CoA Dehydrogenase (LCAD) Deficiency Luft Disease Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Mitochondrial Cytopathy Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes (MELAS) Mitochondrial Encephalopathy Mitochondrial Myopathy Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency / Glutaric Aciduria Type II Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF) Myoneurogastointestinal Disorder and Encephalopathy (MNGIE) Neuropathy Ataxia and Retinitis Pigmentosa (NARP) Pearson Syndrome; Pyruvate Carboxylase Deficiency

26. Barth Syndrome - Encyclopedia Article About Barth Syndrome. Free Access, No Regi encyclopedia article about barth syndrome. barth syndrome in Free online English dictionary, thesaurus and encyclopedia. barth syndrome. http://encyclopedia.thefreedictionary.com/Barth syndrome

Dictionaries: General Computing Medical Legal Encyclopedia Barth syndrome Word: Word Starts with Ends with Definition Barth syndrome is a rare disease This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp . A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Ba-Bd Baber's syndrome Babesiosis Bacterial endocarditis Bacterial food poisoning Bacterial meningitis Bacterial pneumonia BAER Bagatelle Cassidy syndrome Click the link for more information. caused by a sex-linked Sex-linked genes are those carried on the mammalian X chromosome but not the Y chromosome. (In avian species (such as chickens), which have Z and W chromosomes, sex-linked genes are on the Z chromosome, and "male" and "female" are exchanged.) The recessive phenotypes of such genes are more common in males than in females; to be precise, the incidence in females is the square of that in males, so if 1/20 of the male population is green-blind, 1/400 of the female population is. (AIS does not follow this rule because it interferes with reproduction.) Click the link for more information.

27. Barth Syndrome barth syndrome. barth syndrome is a rare disease caused by a sexlinked mutation. It was discovered by Dr. Peter Barth in the Netherlands. http://www.fact-index.com/b/ba/barth_syndrome.html

Main Page See live article Alphabetical index Barth syndrome Barth syndrome is a rare disease caused by a sex-linked mutation. It was discovered by Dr. Peter Barth in the Netherlands . The symptoms are weakness of the striated muscles , both skeletal and cardiac ; weakness of the immune system ; and failure to thrive. Barth boys often die before they are five years old, but if they survive past that age, they are not likely to die from it. External link: http://www.barthsyndrome.org/ This article is from Wikipedia . All text is available under the terms of the GNU Free Documentation License

28. Disease Directory : Rare Disorders : Barth Syndrome Diseases Rare Disorders barth syndrome. 2004 Alpers Disease,Progressive Infantile Poliodystrophy,barth syndrome Alpers http://www.diseasedirectory.net/Rare_Disorders/Barth_Syndrome/default.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Rare Disorders : Barth Syndrome 2004 Barth Syndrome International Family and Scientific Conference - Congress, Title: 2004 Barth Syndrome International Family and Scientific Conference. Date: July 08, 2004 - July 12, 2004. City: Lake Buena Vista. Abnormal cardiolipin and phosphatidylglycerol remodeling in barth ... - Abnormal cardiolipin and phosphatidylglycerol remodeling in barth syndrome Vreken P, Valianpour F, Grivell LA, Nijtmans LG, Wanders RJA, Barth PG Academic Alpers Disease,Progressive Infantile Poliodystrophy,Barth syndrome ... - Alpers Disease,Progressive Infantile Poliodystrophy,Barth syndrome,Cardiomyopathy-Neutropenia Syndrome/Lethal Infantile Cardiomyopathy,LIC,Beta-oxidation Barth Syndrome - The heart diseases the Pediatric Cardiology Research Laboratories are currently investigating are ARVD, barth syndrome, brugada, syndome, dilated cardiomyopathy Barth Syndrome - Barth syndrome is a genetic disorder that appears to occur exclusively in males. National Organization for Rare Disorders, Inc. Barth Syndrome. Barth Syndrome - HOME. Barth Syndrome (Cardiomyopathy, X Linked, Fatal Infantile; Cardioskeletal Myopathy-Neutropenia). The Barth Syndrome Foundation, Inc.

29. Disease Directory : Barth Syndrome Diseases Rare Disorders barth syndrome barth syndrome. Directory Listing. National Organization for Rare Disorders, Inc. barth syndrome. http://www.diseasedirectory.net/detailed/27592.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Barth Syndrome : Barth Syndrome Directory Listing Title: Barth Syndrome Description: Barth syndrome is a genetic disorder that appears to occur exclusively in males. National Organization for Rare Disorders, Inc. Barth Syndrome. Date Added: 2/17/2004 4:20:16 PM URL: http://www.bchealthguide.org/kbase/nord/nord1116.htm

30. Barth Syndrome barth syndrome. Disorder Subdivisions. None. General Discussion. barth syndrome is a genetic disorder that appears to occur exclusively in males. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord1116

31. Barth Syndrome Medical Wisdom Health Advice And Information Health Concerns. barth syndrome Information Page. barth syndrome is a rare congenital metabolic and neuromuscular disorder that affects boys. http://medicalwisdom.com/health/disorders/barth.htm

Join our Message Board Forum Health Concerns Women's Health ... Dental Health Concerns Barth Syndrome Information Page Table of Contents (click to jump to sections) What is Barth Syndrome? Is there any treatment? What is the prognosis? What research is being done? What is Barth Syndrome? 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. Is there any treatment?

32. Health Library - barth syndrome. Synonyms Disorder Subdivisions General Discussion Resources barth syndrome is a genetic disorder that appears to occur exclusively in males. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

33. Rare Disorders, Barth Syndrome Submit Your Site to the barth syndrome category. Sponsored barth syndrome Sites. Submit Your Site to the barth syndrome category. Health Spotlight. http://www.iseekhealth.com/barth_syndrome-2195.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Rare Disorders ... Barth Syndrome More Barth Syndrome Categories: Submit Your Site to the Barth Syndrome category Sponsored Barth Syndrome Sites Promising Cancer Treatment The health benefits from cancer studies by doctors at the National Cancer Institute and John Hopkins School of Medicine are combined in a treatment called Controlled Amino Acid Therapy. CAAT has been proven to work with chemotherapy or alone. Promising Disease Treatment The health benefits from cancer studies by doctors at the National Cancer Institute and John Hopkins School of Medicine are combined in a treatment called Controlled Amino Acid Therapy. CAAT has been proven to work with chemotherapy or alone. WellnessBooks.com - Books For Getting Well Comprehensive resource to books on diseases, disorders and chronic illness. Includes community boards and chat and online ordering. MagnetTherapy.com Discover the healing power of magnets. Jewelry, mattresses, body wraps, insoles for shoes and much more. This ancient form of magnetic pain relief has proven to be effective for many users including many of todays professional atheletes. MagnetTherapy.com Barth Syndrome Family Network - Offers details about the disease, message board, research sites, events and private chats. Numerous links to other resources.

34. Rare Disorders, Barth Syndrome » Submit your URL to iSeekHealth.com. iSeekHealth Website Submission Forms Take advantage of iSeekhealth s low cost, onetime website http://www.iseekhealth.com/index.php?method=show_submit_site&directory_id=2195

35. OMIM - BARTH SYNDROME; BTHS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302060

36. OMIM - #302060 BARTH SYNDROME; BTHS 302060 barth syndrome; BTHS. TEXT. A number sign ( ) is used with this entry because barth syndrome is caused by mutation in the tafazzin gene (TAZ; 300394). http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=302060

37. Barth Syndrome Trust barth syndrome Trust. Registered Charity Number 1100835. What is barth syndrome? barth syndrome is a rare and serious genetic disorder http://www.users.dialstart.net/~damin/

Barth Syndrome Trust Registered Charity Number 1100835 Bosnian Cirilica Deutsch Español ... Vlaams What is Barth Syndrome? Barth syndrome is a rare and serious genetic disorder that manifests itself in the following ways: Cardiomyopathy – Heart failure or heart muscle weakness Neutropenia – weakness in the immune system (specifically reduced “neutrophils”, a type of white blood cell used in fighting bacterial infections) Muscle Weakness and General Fatigue Growth Delay Early diagnosis is key to survival for those who have Barth syndrome . Those who are not accurately diagnosed have only a 30% chance of living past the first few years of life. With proper diagnosis at an early age, they have an 85% - 90% chance of survival. This is why awareness of Barth syndrome is so important. List of which perform Barth Syndrome testing. Barth Syndrome Trust The Barth Syndrome Trust has now been created in the United Kingdom (Registered Charity Number 1100835) in order to better serve the needs of affected families here in the UK and in the rest of Europe. An affected family in the UK may have certain specific needs that cannot always be fully met unless it is through a regional organisation that understands these issues.

38. Bmycharity - Barth Syndrome barth syndrome. When you or your child is diagnosed with a rare disorder like barth syndrome, it can be a very isolating and frightening experience. http://www.bmycharity.com/barthsyndrome

39. ORPHANET® Barth Syndrome ORPHANET. Orphanet database access. barth syndrome. Direct access to data barth syndrome seems to be very rare, however it seems to occur in all ethnic groups. http://www.orpha.net/static/GB/barthsyndrome.html

40. BARTH SYNDROME: Contact A Family - For Families With Disabled Children: Informat printer friendly, barth syndrome, barth syndrome TRUST. barth syndrome Trust c/o Contact a Family 209211 City Road London EC1V 1JN http://www.cafamily.org.uk/Direct/b105.html

printer friendly BARTH SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page 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.

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