61. Fabry Disease — FAQ FAQ. WHAT IS FABRY disease? A blood test should be done for both males and females suspected of having Fabry disease. WHY IS THE disease CALLED FABRY disease? http://www.fabrydisease.com/faq.html

FAQ WHAT IS FABRY DISEASE? The disease has an X-linked recessive inheritance pattern affecting males predominately. Most female carriers are asymptomatic (no symptoms) but some will exhibit symptoms of the disease. This is a rare disease and the prevalence of Fabry disease in males is 1 in 40,000. A blood test should be done for both males and females suspected of having Fabry Disease. WHY IS THE DISEASE CALLED FABRY DISEASE? Fabry disease is an X-linked recessive lysosomal storage disorder characterized by a deficiency of the a-galactosidase A enzyme. It is also known as Anderson Fabry Disease or Morbus Fabry. HOW COMMON IS FABRY DISEASE? Fabry Disease appears in two forms, Classic and Atypical. The Classic form of the disease is estimated to affect 1 in every 40,000 males worldwide. This form may display several or all of the symptoms described before. At present there are no reliable figures for how many people may have the Atypical strain. In this form there may be no symptoms, or development of mild symptoms of cardiac disease later in life (cardiac varient). There are no known ethnic, environmental or economic factors involved in the occurrence of either form of Fabry Disease.

62. TKT Europe - 5S: Lysosomal Disorders Learning More about Fabry disease and its Treatment. You can contact the organizations listed below to get more information on Fabry disease. http://www.tkt5s.com/html/lysosomal/fabry_pat_learning.html

Learning More about Fabry Disease and its Treatment You can contact the organizations listed below to get more information on Fabry disease. Talk with your doctor about other sources of information, including other health care professionals such as medical geneticists, family counselors, and vocational counselors, who can help you learn more about Fabry disease and how it may impact the lives of you and your family. And, of course, you can contact TKT-5S to get more information. The information provided in this site is for informational purposes only. Transkaryotic Therapies, Inc. does not promote or endorse any of the organizations listed below. Every effort is made to ensure that the details provided below are accurate and as current as possible. However, the information is subject to change without notice. P.O. Box 569 Concordia, MO 64020-0569 Telephone: (660) 463-1382 Fax: (660) 463-1356 Home page: www.cpgnet.com/fsig.nsf

63. UCSF School Of Medicine - UCSF-Stanford Lysosomal Disease Center Fabry disease Fabry disease (pronounced fabray ) affects about 1 in 40,000 people of all ethnic backgrounds. Fabry disease is http://www.medschool.ucsf.edu/lysosomal/fabry/

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64. Fabry Disease, News Bureau - University Of Pittsburgh Medical Center, Pittsburgh Fax 412624-3184. UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH TO BE SITE OF MAJOR RESEARCH STUDY TO TEST POTENTIAL THERAPY FOR FABRY disease. http://newsbureau.upmc.com/magee/Fabry.htm

Contact: Michele Baum Patients and medical professionals may call 1-800-533-UPMC (8762) for more information. Telephone: Fax: UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH TO BE SITE OF MAJOR RESEARCH STUDY TO TEST POTENTIAL THERAPY FOR FABRY DISEASE Study will measure effectiveness of investigational enzyme treatment for rare disorder PITTSBURGH, July 6, 2001 The University of Pittsburgh will be one of 20 medical centers to take part in a major international study of a potential therapy for Fabry disease , a rare genetic disorder that affects about 1 in 40,000 males worldwide. The goal of this trial is to determine the safety and efficacy of recombitant Human alpha-galactosidase A (Fabrazyme TM ) on the progression of the disease. The University of Pittsburgh is recruiting patients now for the study, which will be a randomized, double-blind trial. This means that neither the investigators nor the participants will know who is receiving the treatment versus a placebo. New England Journal of Medicine includes a report on an earlier eight-center study that points to the potential of enzyme-replacement therapy to reverse many of the most severe health problems associated with Fabry such as kidney and heart failure and stroke. Fifty-eight patients took part in the

65. Health Library - Fabry disease. Important It is possible that the main title of the report Fabry disease is not the name you expected. Please check http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

66. FDA Approves First Treatment For Fabry Disease Orphan Drug RA News. FDA Approves First Treatment for Fabry disease Orphan Drug. FDA approved 24 April an orphan drug that provides the first http://www.raps.org/s_raps/view.asp?CID=116&DID=14715

67. Kidney Resource Page Fabry s disease. Fabry s disease News. Newsdesk search tools will use either Fabry s disease as a subject or override the titles and ids. http://links.nephron.com/diseases_categories/other_conditions/fabry_disease

Home Links Professional Resources Physicians ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed Nucleotide OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes for: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure All Journals N England J Med Clin Nephrol Curr Opin Nephrol Hypertens J Am Soc Nephrol Proc Eur Dial Transplant Assoc Semin Nephrol Kidney Int Kidney Int Suppl Am J Kidney Dis Nephrol Dial Transplant Other Citematch - abstract by journal, date or author Fabry's Disease Fabry's Disease Navigation HOME NEWS WEBLINKS JOURNALS ... BOARDS Fabry's Disease News Newsdesk search tools will use either Fabry's Disease as a subject or override the titles and ids Popular Weblinks to Fabry's Disease We will develop a CMF to enter URLs and titles that will be specific to Fabry's Disease Fabry's Disease AV Presentations We can make Powerpoint presentations for Fabry's Disease and have them autoload from MS PPT into a ZOPE folder object as compressed jpg files. Introduction to Fabry's Disease We will create a CMF for entering introductions.

68. Fabry Disease Selected medical images OMIM Fabry disease. Angiokeratoma Corporis Diffusum Fabry; Arterial Wall Properties and Womersley Flow in Fabry disease; http://www.gfmer.ch/Genetic_diseases/Fabry_disease/Fabry_disease.htm

Selected medical images OMIM Fabry disease Angiokeratoma Corporis Diffusum Fabry Arterial Wall Properties and Womersley Flow in Fabry Disease Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease Regional Cerebral Hyperperfusion and Nitric Oxide Pathway Dysregulation in Fabry Disease Sources BioMed Central (US) Circulation (US) DermIS - Dermatology Internet Service (Germany) Print this page Edited by Aldo Campana, August 13, 2003

69. Experimental Drug Reverses Effects Of Fabry Disease Experimental drug reverses effects of Fabry disease. By The image on the left shows cells from untreated mice with Fabry disease. The http://www.umich.edu/~urecord/9900/Jun19_00/12.htm

The University Record , June 19, 2000 Experimental drug reverses effects of Fabry disease By Sally Pobojewski Health System Public Relations A new experimental drug developed at the Medical School is the first treatment shown to reverse the effects in mice of a hereditary, incurable disorder called Fabry (Fah-BRAY) disease, which affects between 6,000 and 10,000 men in the United States. Results of the study were published in the June 2000 issue of the Journal of Clinical Investigation in an article by James Shayman, professor of pharmacology and of internal medicine, and colleagues from the U-M and the National Institutes of Health. Fabry disease is caused by a genetic mutation that prevents production of an enzyme called alpha-galactosidase A, which cells store in tiny globules called lysosomes. The cellular version of a garbage disposal, lysosomes are found in all cells that use enzymes to dissolve specific molecular bonds and digest waste products. Without alpha-galactosidase A, lysosomes cannot break up one particular type of glycolipid, a long chain of fats and sugars found in cell membranes. As a result, these molecules accumulate within the kidneys, hearts and blood vessels of patients with Fabry disease. Death occurs in early adulthood from renal failure or cardiovascular complications. According to the Journal of Clinical Investigation The U-M has received several patents and filed additional patent applications related to glycolipid synthesis inhibitors. This study was supported by grants from the National Institutes of Health and the Veterans Administration.

70. Fact Sheet - Fabry Disease .......Name of disease. Fabry disease, also known as AndersonFabry disease and Angiokeratoma Corporis diffusum (universale). Summary of disease http://www.lsdn.com/glance_fact_fabry.htm

Back to top Overview Fact Sheets In-Depth Articles ... Glossary Name of Disease Fabry Disease, also known as Anderson-Fabry disease and Angiokeratoma Corporis diffusum (universale). Summary of Disease Description Fabry disease results from an inherited deficiency of the lysosomal enzyme a -galactosidase A . As a result, globotriaosylceramide (Gb , also called ceramide trihexoside ( CTH ), accumulates within blood vessel walls, various organs, sweat glands, sensory ganglia of the spinal cord and certain other groups of cells in the nervous system. This progressive deposition of neutral glycosphingolipids in most visceral tissues and body fluids selectively damages: renal glomerular and epithelial (podocytes) and renal tubular epithelial cells , myocardial cells and valvular fibrocytes, neurons of the dorsal root ganglia and autonomic system and endothelial, perithelial and smooth muscle cells of the large intestine. In general, males are affected earlier and can be more severely affected than females. This is because the defect in a -galactosidase A activity is inherited on the X-chromosome . (Males have only one X-chromosome and a Y-chromosome , whereas females have two X-chromosomes and no Y-chromosome . Therefore, an affected male (

71. CASE OF THE MONTH October 1996 Fabry s disease is a relatively rare (incidence 140,000) Xlinked hereditary disorder. 6 Fig. 7. Other Internet Case Presentation on Fabry s disease http://sup.ultrakohl.com/Cases96/Oct96/oct96.htm

CASE OF THE MONTH - October 1996 Submitted by: Ginette Lajoie, Diagnostic Electron Microscopy Unit, The Toronto Hospital, Toronto, Ontario Brief clinical history This 49 year old woman presented with increasing proteinuria over the course of 8 months. Her previous medical history included right nephrectomy (1968) for recurrent pyelonephritis, appendectomy, tonsillectomy, C-sections x 2, hysterectomy. She was treated for hypertension since 1991. There was a positive family history for early cardiac ischemic disease. Her paternal uncle died of a myocardial infarct at 31 year-old. Her father has suffered from a myocardial infarct at 38 year-old, but was still living. Her mother had had five miscarriages. A renal biopsy was arranged, to determine the diagnosis and prognosis, and to decide on treatment, if any. Pathology Light microscopy Two cores of renal cortex containing up to 8 glomeruli are obtained. Two glomeruli are globally sclerosed and segmental sclerotic lesions are seen in another two glomeruli [FIG. 1 - HPS stain], and are associated with capsular adhesions. The non-sclerosed glomeruli are within normal limits. Under close inspection, a few glomerular visceral cells appear hypertrophied and have a finely vacuolated cytoplasm [FIG 2. - HPS stain]. Mild interstitial fibrosis is present. Arteries are within normal limits and there is no vacuolation of arterial smooth muscle cells. To access light micrographs, use Figure 1.

72. Fabry Disease Fabry disease. (2002). INTRODUCTION AND CONTRACTING. Talk about X and Y chromosomes. · Gene for Fabry disease is on X chromosome so it is an X linked disease. http://www.genesoc.com/counseling/Outlines/fabrydisease.htm

Resources for Genetic Counselors site updated May 10, 2004 outlines links search Fabry Disease INTRODUCTION AND CONTRACTING Counselor1 will do introductions and get the consent form I’ll explain that I’m going to obtain medical and family history MEDICAL HISTORY DOB What is your ethnicity or country where your ancestors are from? Blood type When did you notice your first symptoms What age? How were you diagnosed? (enzyme activity or gene testing?) When were you diagnosed? Review current meds to make sure nothing has changed “I am going to go through a number of symptoms and want you to let me know if you currently have any of them, have experienced them in the past, or if you have ever been diagnosed with any of the symptoms I list” 1) high cholesterol (do you know how high, when was it diagnosed) 2) anemia or low blood count (when, did you receive treatment for it) 3) muscle pain (myalgia) (describe when, where, how often, intensity, or contributory factors) 4) joint pain (arthralgia) (describe when, where, how often, intensity, anything that contributes)

73. MedWebPlus Subject Metabolic Diseases Fabry S Disease http://medwebplus.com/subject/Metabolic_Diseases/Fabry's_Disease

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Metabolic Diseases Fabry's Disease Related Terms: Gaucher's Disease Focussed Subsets: Enzymology Patient Education Pediatrics therapy Web Sites: Entry GO Fabry's Disease GO National Institute of Neurological Disorders and Stroke. Fabry's Disease Flexis, Inc. Privacy statement Powered by y-Base

74. Fabry Disease First Previous Next Last Index Text. Slide 4 of 63. http://www.fda.gov/ohrms/dockets/ac/03/slides/3917S1_03_FDA-Genzyme/sld004.htm

75. Fabry Disease: Conclusions First Previous Next Last Index Text. Slide 22 of 89. http://www.fda.gov/ohrms/dockets/ac/03/slides/3917S2_01_Transkaryotic Therapies/

76. Renal Biopsy Case Discussion June, 1995 Renal Biopsy Case Discussion June, 1995. Pathologic Diagnosis Lipid storage disease, consistent with Fabry disease. Follow Up None http://www.gamewood.net/pathcase/695/695-disc.htm

Renal Biopsy Case Discussion June, 1995 Pathologic Diagnosis: Lipid storage disease, consistent with Fabry disease Follow Up: None of the cutaneous manifestations of Fabry disease were identified, including no angiokeratomas, palmar erythema or conjunctival telangiectasia. Measurement of blood leukocyte alpha-galactosidase A yielded a result of 0.000 in an assay with a reference range of 0.016-0.200, which confirmed the diagnosis of Fabry disease (a.k.a. Anderson-Fabry disease and alpha-galactosidase A deficiency). Discussion Of Case By Dr. Jennette The renal biopsy in this patient revealed a very uncommon but well recognized cause for renal disease. Based on the clinical features and demographics, membranous glomerulopathy or focal segmental glomerulosclerosis probably would have been the best diagnostic guesses prior to biopsy. In retrospect, the abdominal pain and neuropathy may be manifestations of Fabry disease, but these symptoms certainly were not distinctive enough to strongly support the diagnosis. The renal biopsy diagnosis in this patient was extremely useful for prognostication, genetic counseling and directing clinical management. Although specific therapies for Fabry disease remain ineffective and/or experimental, at least the patient will not be subjected to unnecessary steroid therapy for presumed other glomerulopathies. Renal transplantation is effective for ESRD in patients with Fabry disease because a normal donor kidney has normal levels of alpha- galactosidase A. Renal allografts, however, apparently do not provide enough of the missing enzyme to correct the systemic disease.

77. Genzyme Australasia: Fabry Disease Explained Simply Fabry disease explained in simple terms. What is Fabry disease? How does Fabry affect you? How do you get it? Fabry disease explained. What is Fabry disease? http://www.genzyme.com.au/public/fabry_explained.htm

What is Fabry Disease? How does Fabry affect you? ... support groups Fabry Disease explained What is Fabry disease? Fa bry disease is an inherited disorder caused by a faulty gene in the body. Because of this error in the body's genetic makeup, an essential enzyme (known as alpha-galactosidase , or alpha-GAL) is missing or does not work properly. Without this enzyme, certain fatty materials (primarily globotriaosylceramide or GL-3) are not removed from the body, and instead stay in the cells. The result is a build-up of material. It is this build-up, or storage, that causes most of the problems in Fabry disease. As GL-3 builds up in the walls of blood vessels and other tissues over time, it does increasing damage to the body. Major organs systems like the heart, kidney and brain become affected and can stop functioning properly, causing life-threatening problems. That is why it is important to recognize the symptoms of Fabry disease and to be tested by your doctor if you have concer ns or if Fabry disease runs in your family.

78. ORPHANET - Rare Diseases - Orphan Drugs Printing version, disease Fabry disease, Synonym(s) Alphagalactosidase A deficiency Angiokeratoma, diffuse, ICD E75.2, Fabry s disease http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=324

79. Nutritional And Metabolic Diseases Fabry disease. About Fabry s disease NINDS/NIH (US). Int l C. for Fabry disease - Mt Sinai School of Medicine. A Case of Fabry s disease Torbensen et al. http://www.mic.ki.se/Diseases/C18.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Wolman Disease Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The Nutrition Navigator (rating guide) at Tufts University The USDA Nutrient Database for Standard Reference, rel 13 - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and

80. David Calhoun Research. Enzyme replacement therapy for Fabry disease patients Mutations in the agalactosidase A gene result in the sphingolipidosis called Fabry disease. http://www.sci.ccny.cuny.edu/chemistry/faculty/calhoun.html

David H. Calhoun Professor Biochemistry Tel: (212) 650-6934 (off), -6936, -6001 (lab) Fax: (212) 650-7974 E-mail: calhoun[at]sci.ccny.cuny.edu B.A., Birmingham-Southern College Ph.D., University of Alabama Birmingham First row, left to right, Wildys Rosario, Undergraduate Premed Biochemistry Major, Ming Jin, Postdoctoral Fellow, Janet Gonzalez, Biochemistry Doctoral Program, Elsie Watler, Post-Baccalaureate Premed Biochemistry Major. Second row, left to right, Fang Lin, Postdoctoral Fellow, Renata Pyzik, Biochemistry Masters Program, David Calhoun, Professor Biochemistry Division, Jin Lu, Biochemistry Doctoral Program. Research Enzyme replacement therapy for Fabry disease patients Please also check our Fabry disease webpage Potentially Pathogenic Gastric Coccus Quinate metabolism and lignin formation in the loblolly pine We propose to focus upon three quinate dehydrogenase proteins: N QDH-NADP and N QDH- NAD in needle tissue and X QDH-NADP in xylem-forming cells. N QDH-NADP appears to be trifunctional, having catalytic domains that carry out the overall conversion of quinate to protocatechuate. The enzymes will be purified, used to raise specific antibodies, and characterized for physical and catalytic properties. cDNA clones corresponding to each QDH will be obtained by immunoscreening. Specific antibody will be used for immunogold EM cytolocalization. Regulation will be examined by monitoring levels of enzyme activity, amounts of protein, and transcript abundance in response to developmental and environmental cues. The longterm objective is to understand how the entire metabolic network is differentially regulated to accomplish the dynamic alternative molecular fates of quinate. This is expected to provide ultimately a rational basis for biotechnological manipulations designed to alter flux toward and away from quinate in different cellular compartments and in different specialized tissues.

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