1. Welcome To The Barth Syndrome Web Site The (BSF) website offers support to affected families and individuals as well asassisting scientists to make an accurate diagnosis of barth syndrome. http://www.barthsyndrome.org/

Welcome About Barth Syndrome About Barth Syndrome Foundation Site Index Contact Us ... BSF Research Grant Program Barth Syndrome Foundation is a proud member of the National Health Council 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 2005 BSF grant information posted. Learn more about the 2005 Grant process and dates Regional Outreach Meetings PDF Version of Short Presentation describing Barth syndrome to Physicians has been added to the Physicians page (note this version was updated Feb 2005). PDF Version of Newsletter Volume 5, Issue 1 Chart of Mutations and variation in the TAZ / G4.5 gene can be found on the Physician page. DVD presentations from the 2004 BSF Conference are available for purchase.

2. Barth List of clinical symptoms, history of the condition, current news, and links tosupport groups. http://www.csun.edu/~hcbio033/barth.html

The Complete Barth Syndrome Homepage Introduction Commonly Asked Questions Clinical Symptoms Support Groups ... Go to the Top Last updated 06/20/00. Please direct any comments, questions, or suggestions to Troy Phipps: hbbio254@csun.edu

3. Barth Syndrome Information Page: National Institute Of Neurological Disorders An barth syndrome information sheet compiled by the National Institute of NeurologicalDisorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/barth/barth.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Barth Syndrome Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Barth Syndrome NINDS Barth Syndrome Information Page Get Web page suited for printing Email this to a friend or colleague 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? ... Organizations What is Barth Syndrome? Is there any treatment? There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection. Medicines may be prescribed to control heart problems. The dietary supplement carnitine has aided some Barth children but in others it has caused increasing muscle weakness and even precipitated heart failure. Only careful dietary monitoring directed by a physician or nutritionist familiar with the disorder can ensure proper caloric and nutritional intake.

4. Welcome To The Barth Syndrome Web Site 2004 BSF grant information 2002, 2003 and 2004 Grant Recipients barth syndrome in Many Languages barth syndrome in English http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. About Barth Syndrome Syndrome Hrvatski. barth syndrome Cirilica. barth syndrome Romania. barth syndrome Bosnian. barth syndrome Swedish. barth syndrome Russian. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Schedule.html Clinical and Genetic Characteristics of barth syndrome. 100110 Welcome- Ricard I.Kelley, Biochemistry of barth syndrome and Future Research Goals http://www.csun.edu/~hcbio033/Schedule.html

Barth Syndrome Family and Research Meeting Kennedy Krieger Institute-Fairmount Building- June 16-17, 2000 Friday, June 16th- Afternoon Session Clinical and Genetic Characteristics of Barth Syndrome 1:00-1:10 Welcome- Ricard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute. 1:10-2:00 Peter G. Barth, M.D.- University of Amsterdam, Amsterdam, The Netherlands "X-linked cardiomyopathy and neutropenia- an historic and clinical overview of Barth syndrome" 2:00-2:45 Richard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute. "Barth syndrome, the American experience" 2:45-3:30 Gerard Berry, M.D.- Children's Hospital of Philadelphia, Philadelphia, PA "Treatment of Barth syndrome with growth hormone." 3:30-4:00 Coffee Break 4:00-4:30 Gerald Cox, M.D., Ph.D, The Children's Hospital, Boston, MA "Neutropenia in Barth syndrome: treatment with G-CSF" 4:30-5:00 Iris Gonzalez- duPont Children's Hospital, Wilmington, DE "The spectrum of G4.5 mutations in Barth syndrome" 5:00-5:15 Ricard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute. "Cardiomyopathy-Parkinsonism syndrome: an autosomal recessive Barth-like disorder" 5:15-5:30 Troy Phipps, Doctoral Candidate, California State University, Northridge.

7. The MAGIC Foundation 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/

Additional Resources Growth Charts Dictionary Welcome to the MAGIC Foundation! Important Message Center Our Motto: Children have a short time to grow and a lifetime to live with those results. The MAGIC Foundation 6645 W. North Avenue Oak Park, Illinois 60302 The MAGIC Foundation 1.800.362.4423 (1.800.3 MAGIC 3) info@magicfoundation.org Link Policy

8. Barth Syndrome barth syndrome is a genetic disorder that appears to occur exclusively in males. Although barth syndrome typically becomes apparent during infancy or http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Barth Syndrome - X-linked Cardiomyopathy And Neutropenia An article about barth syndrome with a description, clinical manifestations, etiology, epidemiology, diagnosis, prognosis and management. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Barth Syndrome - X-linked Cardiomyopathy And Neutropenia Another defining characteristic of barth syndrome is its sexlinked pattern ofinheritance The neutropenia of barth syndrome, while not always cyclical, http://www.hopkinsmedicine.org/cmsl/Barth_Summary.html

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.

11. 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

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.

12. Barth Syndrome of Syndrome Publication Synopsis (OMIM)......707 North Broadway. Baltimore, Maryland 21205 barth syndrome (Xlinked Cardiomyopathy) http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Barth Syndrome of Syndrome......Kennedy Krieger Institute. 707 North Broadway. Baltimore, Maryland 21205.barth syndrome (Xlinked Cardiomyopathy). http://www.hopkinsmedicine.org/cmsl/Barth_Syndrome.html

Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Maryland 21205 Barth Syndrome (X-linked Cardiomyopathy) Description of Syndrome Publication Synopsis (OMIM) Bibliography with Abstracts ... Family Support Group

14. The Complete Barth Syndrome Homepage The Complete barth syndrome Homepage Introduction Commonly Asked Questions Clinical Symptoms Support Groups http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Barth Syndrome barth syndrome is a genetic disorder that appears to occur exclusively in males.Although barth syndrome http://my.webmd.com/hw/health_guide_atoz/nord1116.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Barth Syndrome Important It is possible that the main title of the report Barth Syndrome 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. Synonyms Cardioskeletal Myopathy, Barth Type Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria Endocardial Fibroelastosis, Type 2 (EFE2) 3-Methylglutaconic Aciduria, Type II (MGA, Type II) X-Linked Cardioskeletal Myopathy and Neutropenia Disorder Subdivisions None General Discussion 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).

16. Barth Syndrome Information Page National Institute Of barth syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Barth Syndrome International. Founded 2000. Multilingual. Offers support to families andaffected individuals. Provides http://my.webmd.com/hw/health_guide_atoz/shc29bar.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Barth Syndrome Barth Syndrome Barth Syndrome International. Founded 2000. Multilingual. Offers support to families and affected individuals. Provides information, support awareness, research, outreach, newsletter, referrals, pen pals, and biennial conference. Peer to peer mentoring program. WRITE: The Barth Syndrome Fdn. PO Box 974 Perry, FL 32348 CALL: 850-223-1128 (Voice/Fax) E-MAIL: info@barthsyndrome.org WEBSITE: http://www.barthsyndrome.org VERIFIED: 5/3/2005 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

18. The MAGIC Foundation An organization providing support and education regarding growth disorders in children and related adult disorders. Includes Growth Hormone http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Barth Syndrome barth syndrome is a genetic disorder that appears to occur exclusively in males.Although barth syndrome typically becomes apparent during infancy or early http://www.bchealthguide.org/kbase/nord/nord1116.htm

var hwPrint=1;var hwDocHWID="nord1116";var hwDocTitle="Barth Syndrome";var hwRank="1";var hwSectionHWID="nord1116-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Barth Syndrome Important It is possible that the main title of the report Barth Syndrome 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. Synonyms Cardioskeletal Myopathy, Barth Type Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria Endocardial Fibroelastosis, Type 2 (EFE2) 3-Methylglutaconic Aciduria, Type II (MGA, Type II) X-Linked Cardioskeletal Myopathy and Neutropenia Disorder Subdivisions None General Discussion 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).

20. Mitochondrial Disorders MNGIE. Other mitochondrial defects Mitochondrial membrane structure barth syndrome. Mitochondrial protein importation DeafnessDystonia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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