41. Health Library - prevention. Fabry disease. Synonyms complications. Fabry disease, which is inherited as an Xlinked recessive trait, primarily affects males. A http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

42. Fabry Disease Fabry disease is a rare genetic disorder of lipid metabolism characterized by a deficiency of the enzyme alphagalactosidase A, also known as Fabry disease. http://www.bchealthguide.org/kbase/nord/nord200.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord200"; var hwDocTitle="Fabry Disease"; var hwRank="1"; var hwSectionHWID="nord200"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Fabry Disease Important 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. Synonyms Alpha-Galactosidase A Deficiency Anderson-Fabry Disease Angiokeratoma Corporis Diffusum Angiokeratoma Diffuse Ceramide Trihexosidase Deficiency GLA Deficiency Hereditary Dystopic Lipidosis Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Schindler Disease Gaucher Disease Fucosidosis Erythromelalgia General Discussion Symptoms The symptoms of Fabry disease usually begin during childhood or adolescence, but may not become apparent until the second or third decade. Early symptoms include the appearance of a reddish to dark-blue skin rash, especially in the area between the hips and the knees. These skin lesions, which vary in color from pink to blue-black, may be flat or raised. In some cases, people with Fabry disease may not have these characteristic skin lesions. Affected individuals may notice a decrease in the amount of sweat production (hypohidrosis) and a growing discomfort in warm temperatures (heat intolerance).

43. UK NKF - Fabry Disease What is Fabry disease? Fabry disease is an inherited disorder. This chemical that builds up is called ‘GL3’. Why is it called Fabry disease? http://www.kidney.org.uk/Medical-Info/fabry-disease/

Fabry Disease What is Fabry disease? Why is it called Fabry disease? What causes Fabry disease? What are the Symptoms of Fabry Disease? How is Fabry disease passed on? Is there treatment for Fabry disease? What is Fabry disease? Fabry disease is an inherited disorder. A chemical in the body which would normally be broken down builds up and causes damage, mainly to the heart, kidneys and brain. This chemical that builds up is called ‘GL-3’. Why is it called Fabry disease? In 1898, two Doctors - Dr Johann Fabry in Germany, and Dr William Anderson in England - independently published articles describing patient who had the disease.  Dr Johann Fabry continued to work in this specialised area, and the disease was subsequently named after him.  Much more work was conducted from that time to this, which has led toward developing a treatment for Fabry disease. What causes Fabry disease? A chemical called ‘GL-3’ builds up in the body in Fabry disease, because it is not broken by the body. An enzyme should break GL-3 down, but is missing or defective in Fabry disease. Chemical changes in the body need the help of enzymes to take place. There is a different enzyme for each type of chemical reaction in the body, so that thousands of enzymes make the body work. It is a bit like a production line in a factory, where a series of different machines make a series of changes to produce an end product, or to break down waste. If one machine on a factory production line were to break down, there would be a build up of half finished goods by the machine. This is what can happen if an enzyme in the human body is missing or defective.

44. UK NKF - Fabry Disease What are the Symptoms of Fabry disease? Thus people with Fabry disease may be favourites as invited subjects to test young doctors in medical examinations! http://www.kidney.org.uk/Medical-Info/fabry-disease/symptoms.html

What are the Symptoms of Fabry Disease? Pain Skin Eye Kidney Heart Brain Pain Pain is common in the hands and feet, and occurs in childhood onwards.  This pain can be brought on by changes in temperature, stress or fatigue.  The pain may be shooting or ‘bony’, as though it is coming from deep within the arm or leg. The medical term for this pain is acroparathesia Pain may also occur in the tummy, particularly after meals, and frequent bowel movements are quite common in patients with the disease. Skin Patients with Fabry disease are less inclined to sweat, which makes the control of their body temperature very difficult. The medical term for this is hypohidrosis. Many patients have small reddish purplish dots on their skin around the bellybutton and the bathing suit area.  The spots do not cause pain are are not usually very prominent, but the particular shade and distribution of the spots is unique to Fabry disease. Thus people with Fabry disease may be favourites as invited subjects to test young doctors in medical examinations! Eye Changes in the cornea of the eye with the appearance of a "starburst" can be seen in some patients, by an eye specialist using special equipment. They do not usually cause serious visual disturbance or blindness.

45. NORD - National Organization For Rare Disorders, Inc. Research. Fabry disease. Participants are being recruited for a clinical trial to study an investigational enzyme replacement therapy for Fabry disease. http://www.rarediseases.org/nord/research/fabry

Search NORD's Databases Read about diseases in NORD's Rare Disease Database. Find an organization in our Organizational Database. Index of Rare Diseases The A-to-Z of Rare Diseases Rare Disease Database Read about more than 1,100 rare diseases. View sample report Index of Organizations The A-to-Z of Organizations. Organizational Database Find a support group or other source of help. Database Subscriptions Many libraries, schools, universities, and hospitals subscribe to the Rare Disease Database. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. Research Fabry Disease Participants are being recruited for a clinical trial to study an investigational enzyme replacement therapy for Fabry disease. The goal of this trial is to determine the efficacy and safety of recombinant human alpha-galactosidase A (Fabrazyme) on the progression of Fabry disease. The study is being conducted worldwide. Patients will be enrolled into one of two treatment arms, and the trial will last for up to 29 months. Fabry disease is a lysosomal storage disorder in which patients lack the enzyme alpha-Galactosidase. It is X-linked recessive, which means the mother carries the trait for Fabry disease and has a 50 percent chance of passing it on to her children. Fathers pass it on to all of their daughters. Men tend to be more severely affected, but women can develop severe symptoms as well. Some of the more common clinical symptoms include pain and burning sensations in the hands and feet, angiokeratoma (a spotted, dark red skin rash), decreased ability to sweat, kidney failure, cardiac disease and stroke. There is a simple blood test available to determine whether you carry the Fabry gene.

46. NORD - National Organization For Rare Disorders, Inc. Research. NINDS Physicians Study Fabry s disease. At the National Institute of Neurological Disorders and Stroke (NINDS) of the National http://www.rarediseases.org/nord/research/phys_study_fabry

Search NORD's Databases Read about diseases in NORD's Rare Disease Database. Find an organization in our Organizational Database. Index of Rare Diseases The A-to-Z of Rare Diseases Rare Disease Database Read about more than 1,100 rare diseases. View sample report Index of Organizations The A-to-Z of Organizations. Organizational Database Find a support group or other source of help. Database Subscriptions Many libraries, schools, universities, and hospitals subscribe to the Rare Disease Database. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. Research NINDS Physicians Study Fabry's Disease At the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health (NIH), a study is being conducted (Reference #95-N-0121) to improve the understanding of Fabry's disease. Knowledge gained as a result of this study may contribute to the development of effective therapies for Fabry's disease in the future. All studies are carried out in compliance with safety and testing standards of the U.S. Department of Health and Human Services. The curent study includes a physical examination, and routine blood, urine, and other standard medical tests. For more information, visit http://clinicalstudies.

47. Clinical Trial: Registry Of Fabry Disease - A Multicenter Observational Study Registry of Fabry disease A Multicenter Observational Study. This worldwide study will include 100 patients participating in Fabry disease studies at the NIH. http://www.clinicaltrials.gov/ct/show/NCT00055016?order=3

48. Clinical Trial: Alpha-Galactosidase A Replacement Therapy For Fabry Disease AlphaGalactosidase A Replacement Therapy for Fabry disease. This study is completed. Sponsored by. Fabry disease, Drug DRX005B, Phase II. http://www.clinicaltrials.gov/ct/gui/show/NCT00048906?order=18

49. Fabry Disease Fabry disease Important It is possible that the main title of the report Fabry disease is not the name you expected. Please check http://webcenter.health.webmd.netscape.com/hw/health_guide_atoz/nord200.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Autos Browser Central Computing Entertainment Games Health International Lifestyles Local Guide Music News Personal Finance Shopping Small Business Sports Travel Weather Home Health WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators 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 Fabry Disease Important It is possible that the main title of the report Fabry Disease 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 Alpha-Galactosidase A Deficiency Anderson-Fabry Disease Angiokeratoma Corporis Diffusum Angiokeratoma Diffuse Ceramide Trihexosidase Deficiency GLA Deficiency Hereditary Dystopic Lipidosis Disorder Subdivisions None General Discussion Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG

50. Fabry Disease Fabry Support and Information Group (FSIG). Fabry disease Fabry Support and Information Group (FSIG) National network. Founded 1996. http://webcenter.health.webmd.netscape.com/hw/raising_a_family/shc29fab.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Autos Browser Central Computing Entertainment Games Health International Lifestyles Local Guide Music News Personal Finance Shopping Small Business Sports Travel Weather Home Health WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... Fabry Support and Information Group (FSIG) Fabry Disease Fabry Support and Information Group (FSIG) National network. Founded 1996. Dedicated to dispensing information and encouraging mutual self help as a means of emotional support to Fabry patients and family members. Information and referrals, newsletters, networking of members, discussion page. WRITE: FSIG P.O. Box 510 Concordia, MO 64020 CALL: 660-463-1355 FAX: 660-463-1356 E-MAIL: info@Fabry.org WEBSITE: http://www.fabry.org VERIFIED: 3/17/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; 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 and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

51. Fabry Disease Fabry disease In this Xlinked disorder affected males are usually symptomless until the end of the first decade when severe pain in the extremities begins to http://www.sas-centre.org/genetic/genpages/lysstodisfabrydisease.html

Fabry Disease In this X-linked disorder affected males are usually symptomless until the end of the first decade when severe pain in the extremities begins to occur. Angiokeratoma appears at about the same time as clusters of dark-red lesions around the genitals, buttocks, back and thighs. Later the painful crises subside but the patients succumb to renal and cardiovascular disease, with death in the forties or fifties. Eye changes are seen first as corneal haziness and later as whorls radiating from the centre of the cornea to the periphery. Many heterozygous female carriers of the disease show some of the symptoms seen in affected males, and a few have severe problems including renal failure. Examination for corneal opacities is a useful investigation in suspected carriers for whom biochemical results have been inconclusive. Enzyme Deficiency of a -Galactosidase A is the primary defect. Back to Lysosomal Storage Disorders Index

52. CFCF :: News :: Medical Reports 12Feb-2004, MRSA. 10-Feb-2004, FABRY disease. FABRY disease MEDICAL FABRY disease FEB. AT FIRST THIS NEW TREATMENT FOR FABRY disease GAVE MICHEL HOPE. http://www.cfcf.ca/cfcf/news/medical&id=151

Medical Reports Date Subject 27-May-2004 MEDICAL ALERT 25-May-2004 NEW MEDICATIONS 20-May-2004 HAND SURGERY 18-May-2004 COCHLEAR 13-May-2004 GARDENING 11-May-2004 KIDS WITH MS 06-May-2004 THALASSEMIA 04-May-2004 FATIGUE 29-Apr-2004 PEDIATRIC STROKES 27-Apr-2004 MENTAL HEALTH 22-Apr-2004 MEDICAL VACCINES 20-Apr-2004 HYSTERECTOMY 13-Apr-2004 LUNG CANCER 08-Apr-2004 FIBROIDS 06-Apr-2004 DEPRESSED 01-Apr-2004 STENT 30-Mar-2004 CROHN'S DISEASE 23-Mar-2004 LANTUS 18-Mar-2004 16-Mar-2004 NEW MEDICATIONS 09-Mar-2004 FOLIC ACID 06-Mar-2004 SICKLE 04-Mar-2004 DIABETES 02-Mar-2004 SICKLE 24-Feb-2004 PANIC 19-Feb-2004 SKI SAFETY 17-Feb-2004 GAMUNEX 12-Feb-2004 MRSA 10-Feb-2004 FABRY DISEASE FABRY DISEASE [MEDICAL FABRY DISEASE] [FEB. 10/04] 28-YEAR-OLD MICHEL SEVIGNY HAS BEEN WONDERING HOW LONG HE WILL BE ABLE TO WALK THROUGH THESE HOSPITAL DOORS. [-MICHEL SEVIGNY/Has Fabry Disease] That’s not good, when you hear maybe you're going to die around 45 years old MICHEL HAS FABRY DISEASE. IT'S A RARE LIFE THREATENING METABOLIC DISORDER. AT FIRST THIS NEW TREATMENT FOR FABRY DISEASE GAVE MICHEL HOPE. IT'S AN ENZYME REPLACEMENT THERAPY CALLED FABRAZYME. 6 CANADIAN PATIENTS HAVE BEEN RECEIVING IT BY INFUSION EVERY TWO WEEKS. THEY SEEM TO BE RETURNING TO HEALTH. [Dr. DANIEL BICHET/Sacre-Coeur Hospital]

53. FDA Approves First Treatment For Fabry Disease the latest in MEDICINE SAVINGS. April 24, 2003. FDA Approves First Treatment for Fabry disease. FDA today approved the first treatment http://www.medicalpromotion.com/FDAfabrazyme.htm

April 24, 2003. FDA Approves First Treatment for Fabry Disease FDA today approved the first treatment for patients with Fabry Disease, a serious metabolic genetic disorder affecting approximately one in 40,000 males. While it is believed that fewer females suffer the most serious consequences of the disease, they can be similarly and seriously affected as well. Because of a deficiency in an enzyme, alpha-galactosidase A, Fabry Disease causes certain fats to accumulate in the blood vessels over many years, leading to the involvement of various tissues and organs of the body, including the kidneys and the heart, which can then cause organ failure. As a result, patients with Fabry Disease often must cope with significant pain and disability and typically have a shortened life span. The new product, called Fabrazyme (agalsidase beta), is a version of the human form of the natural enzyme produced by recombinant DNA technology. It is given intravenously. This replacement of the missing enzyme reduces a particular type of lipid (fat) accumulation in many types of cells, including blood vessels in the kidney and other organs. It is believed likely that this reduction of fat deposition will prevent the development of life-threatening organ damage and have a positive health effect on patients. "This priority approval of an orphan drug illustrates FDA's commitment to approving innovative new therapies for patients with serious and life-threatening diseases quickly, based on response to treatment of biological markers likely to predict long-term clinical benefit." said FDA Commissioner Mark B. McClellan, M.D., Ph.D. "The orphan drugs program provides crucial incentives for innovators to develop new treatments for rare diseases. By approving this new biotechnology therapy under the 'accelerated approval' process, we are making this product available more quickly to patients who need it."

54. Ann Intern Med -- Abstracts: Desnick Et Al. 138 (4): 338 CLINICAL GUIDELINES. Fabry disease, an UnderRecognized Multisystemic Disorder Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy. http://www.annals.org/issues/v138n4/abs/200302180-00014.html

Search Annals: Advanced search Home Current Issue Past Issues ... ACP Online Article Table of Contents Full Text of this article PDF of this article Figures/Tables List Services Send comment/rapid response letter Notify a friend about this article Alert me when this article is cited Add to Personal Archive New Download to Citation Manager ACP Search PubMed Articles in PubMed by Author: Desnick, R. J. Wilcox, W. R. Related Articles in PubMed PubMed Citation ... PubMed CLINICAL GUIDELINES Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy Robert J. Desnick, PhD, MD Roscoe Brady, MD John Barranger, MD, PhD Allan J. Collins, MD ... William R. Wilcox, MD, PhD Fabry disease ( -galactosidase A deficiency) is an X-linked recessive lysosomal storage disorder. Although the disease presents in childhood and culminates in cardiac, cerebrovascular, and end-stage renal disease, diagnosis is often delayed or missed. This paper reviews the key signs and symptoms of Fabry disease and provides expert recommendations for diagnosis, follow-up, medical management

55. CHG Replagal (Agalsidase Alfa) Improves Cardiac Function In Fabry CHG Replagal (Agalsidase Alfa) Improves Cardiac Function in Fabry disease VIENNA, AUSTRIA May 18, 2001 Transkaryotic Therapies, Inc. http://www.pslgroup.com/dg/1fb922.htm

56. Europe Approves Replagal (Agalsidase Alfa) For Fabry Disease Europe Approves Replagal (Agalsidase Alfa) For Fabry disease CAMBRIDGE, MA August 3, 2001 Transkaryotic Therapies (TKT), Inc. http://www.pslgroup.com/dg/20299a.htm

57. Fabry Disease Program Fabry disease Program. Fabry disease Facts and Information. Every patient suspected to have Fabry disease should have biochemical confirmation of the diagnosis. http://www.med.nyu.edu/neuro/neurogenetics/fabry_clin_eval.html

DEPARTMENTS DIRECTORY ADVANCED SEARCH SCHOOL HOME ... Neurogenetics Resources Division of Neurogenetics Fabry Disease Program Fabry Disease: Facts and Information Summary Diagnosis Clinical Manifestations Clinical Evaluation ... Genetics and Counseling Issues Clinical Evaluation We recommend that patients diagnosed with Fabry disease undergo testing to establish the pattern and severity of their condition. It should be noted that the wide variability or differences in presentation found between patients necessitates an individualized management approach. Every patient suspected to have Fabry disease should have biochemical confirmation of the diagnosis. Patients with Fabry disease are evaluated through the Clinical Trials Unit at NYU, where they encounter a multi-disciplinary team of physicians, nurses and genetic counselor who can attend to the various problems that afflict a patient with FD. At the Center, blood tests are obtained to determine blood counts and check on liver and kidney function. Kidney function is also evaluated by measuring glomerular filtration rate (GFR)/renal plasma flow (RPF). These are special tests to see how well your kidneys are working and involve the oral (by mouth) administration of a mild salt solution and two safe medications in one of your arm veins. Blood and urine are collected and analyzed (tested).

58. Fabry Disease Program Division of Neurogenetics. Fabry disease Program. Fabry disease Facts and Information. http://www.med.nyu.edu/neuro/neurogenetics/fabry_clin_man.html

DEPARTMENTS DIRECTORY ADVANCED SEARCH SCHOOL HOME ... Neurogenetics Resources Division of Neurogenetics Fabry Disease Program Fabry Disease: Facts and Information Summary Diagnosis Clinical Manifestations Clinical Evaluation ... Genetics and Counseling Issues Clinical Manifestations Fabry disease, because of its X-linked inheritance, is primarily expressed in males although females can also develop disease complications (explained in the section on Genetics and Counseling Issues Clinical problems usually begin in young boys with episodes of pain and discomfort in the hands and feet that may be brought on by exercise, fever, fatigue, stress, or changes in the weather. On close inspection of the skin, dark red to blue-black spots or rashes (angiokeratomas) may be found that tend to cluster around the genital areas and about the hips and umbilicus. Special examination of the eyes may reveal the presence of comeal opacities (the comea is the transparent tissue over the pupil and iris of the eye). Patients with FD are usually not aware of the corneal opacities because they do not interfere with vision. FD is a progressive disorder, and significant storage may be found in the various organs affected by the disease before the diagnosis is recognized and usually before patients show signs and symptoms. Initially, male patients may show the presence of protein in the urine; ultimately, renal (kidney) insufficiency and failure of kidney function develops. Anemia and hypertension can be found among patients with renal disease. Approximately 30% of patients develop cardiac (heart) problems including mitral valve prolapse and cardiomyopathy. Transient ischemic attacks (strokes) also commonly occur. Focal neurologic signs (example, weakness in one extremity, transient visual loss, dizzy spells, slurred speech) may be observed, as a result of ischemia (interruption in the blood supply to a region of the brain).

59. Florida State University College Of Medicine Digital Library Fabry disease Patient/Family Resources. Miscellaneous. Miscellaneous Fabry disease Patient/Family Resources Healthfinder (US DHHS) Homepage http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphi

Patient/Family Resources by Topic: Metabolic Disorders Fabry Disease Patient/Family Resources Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Fabry Disease Clinical Resources National Tay-Sachs and Allied Diseases Association: Homepage Profiles of Allied Diseases: List of documents Fabry Disease: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Fabry's Disease: Access document Merck Manual - Second Home Edition Table of contents Section 23. Children's Health Issues: Table of contents Chapter 282. Hereditary Disorders of Metabolism: Table of contents Introduction: Access document Lipid Metabolism Disorders: Access document Introduction: Access document Fabry's Disease: Access document Miscellaneous Fabry Disease Patient/Family Resources Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

60. Healthwise Topic Fabry disease, Back to previous page. Fabry disease, which is inherited as an Xlinked recessive trait, primarily affects males. http://www.stlukes-sf.org/health/healthinfo/index.cfm?section=healthinfo&page=ar

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