1. National Tay-Sachs & Allied Diseases Association Home Page for organization offering support and programs geared to families affected by taysachs disease and over 40 other fatal degenerative genetic disorders. meta name= and prevention of Tay-Sachs, Canavan, and related diseases http://www.ntsad.org/

Welcome to the Association, Inc. Web Site Support NTSAD Purchase "Sophia's Garden" CD. ELFWorks Custom Knitted PhotoBlankets Request for Proposals for NTSAD's 2004 Research Initiative ... Contact Us Attention Members: Sign Up for the NTSAD Members Only Message Board Today. Click Here Tay-Sachs Canavan , and related diseases, and to provide information and support services to individuals and families affected by these diseases, as well as the public at large. Strategies for achieving these goals include public and professional education, research, genetic screening, family services and advocacy. NTSAD's foundations and its future. The Allied Diseases profiled. The basis of genetics for the Allied Diseases. NTSAD programs for affected children and families. Further sources of information. Our thanks to those responsible for assembling the information found on this website President: John F. Crowley Director: Jayne C. Gershkowitz NTSAD Scientific Advisory Committee NTSAD Affiliates and Chapters Information found on this and any website should not be construed as a substitution for professional medical care. NTSAD and NYU Medical Center wish to emphasize that you should always consult your physician regarding your child's health.

2. NINDS Tay-Sachs Disease Information Page More about taysachs disease, Studies with patients, Research literature, Press releases, Disclaimer, NINDS tay-sachs disease Information Page Reviewed 12-05-2001 http://www.ninds.nih.gov/health_and_medical/disorders/taysachs_doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Tay-Sachs Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Tay-Sachs Disease Information Page Reviewed 12-05-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Tay-Sachs Disease? Is there any treatment? What is the prognosis? What research is being done? ... Additional resources from MEDLINEplus What is Tay-Sachs Disease? Is there any treatment? Presently there is no treatment for Tay-Sachs. What is the prognosis? Even with the best of care, children with Tay-Sachs disease usually die by age 5. What research is being done? NINDS supports research to discover new ways to treat, prevent, or cure disorders that strike the brain and nervous system, including Tay-Sachs. Select this link to view a list of all studies currently seeking patients.

3. The NTSAD Diseases Family: Tay-Sachs Disease taysachs disease (Classical Infantile Form). Contents. 1, What is tay-sachs disease? See also Late-Onset tay-sachs disease. What is tay-sachs disease? http://www.ntsad.org/pages/t-sachs.htm

Tay-Sachs Disease (Classical Infantile Form) Contents What is Tay-Sachs Disease? How is Tay-Sachs Disease Transmitted? Are Certain Populations at Higher Risk? Is There a Test to Identify Carriers? ... Additional information links [See also: Late-Onset Tay-Sachs Disease What is Tay-Sachs Disease? THE CLASSICAL FORM OF TAY-SACHS disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system. T he disease is named for Warren Tay (1843-1927), a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye. It is also named for Bernard Sachs (1858-1944), a New York neurologist whose work several years later provided the first description of the cellular changes in Tay-Sachs disease. Sachs also recognized the familial nature of the disorder, and, by observing numerous cases, he noted that most babies with Tay-Sachs disease were of eastern European Jewish origin. T ay-Sachs disease is caused by the absence of a vital enzyme called hexosaminidase A (Hex-A). Without Hex-A, a fatty substance or lipid called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. The destructive process begins in the fetus early in pregnancy, although the disease is not clinically apparent until the child is several months old. By the time a child with TSD is three or four years old, the nervous system is so badly affected that life itself cannot be supported. Even with the best of care, all children with classical TSD die early in childhood, usually by the age of five.

4. Tay-Sachs Disease Refsum disease. Tangier disease. taysachs disease. Wilson's disease Genes and DiseaseNutritional and Metabolic Diseases. tay-sachs disease. tay-sachs disease, a heritable metabolic http://www.ncbi.nlm.nih.gov/disease/Tay_Sachs.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View HEXA on chromosome 15 Databases PubMed The Literature Key papers Recent literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Fact Sheet from National Institute of Neurological Disorders and Stroke NTSAD GeneClinics a medical genetics resource Tay-Sachs Disease Tay-Sachs disease, a heritable metabolic disorder commonly associated with Ashkenazi Jews, has also been found in the French Canadians of Southeastern Quebec, the Cajuns of Southwest Louisiana, and other populations throughout the world. The severity of expression and the age at onset of Tay-Sachs varies from infantile and juvenile forms that exhibit paralysis, dementia, blindness and early death to a chronic adult form that exhibits neuron dysfunction and psychosis. Tay-Sachs is an autosomal recessive disease caused by mutations in both alleles of a gene (HEXA) on chromosome 15. HEXA codes for the alpha subunit of the enzyme beta-hexosaminidase A. This enzyme is found in lysosomes, organelles that break down large molecules for recycling by the cell. Normally, beta- hexosaminidase A helps to degrade a lipid called GM2 ganglioside, but in Tay-Sachs individuals, the enzyme is absent or present only in very reduced amounts, allowing excessive accumulation of the GM2 ganglioside in neurons. The progressive neurodegeneration seen in the varied forms of Tay-Sachs depends upon the speed and degree of GM2 ganglioside accumulation, which in turn is dependent upon the level of functional beta-hexosaminidase A present in the body.

5. Tay-Sachs Disease taysachs disease. Classical tay-sachs disease is an especially tragic inherited birth defect Babies with tay-sachs disease lack an enzyme (protein) called hexosaminidase A (hex A http://gunsmoke.ecn.purdue.edu/~kpasquet/project/tays.html

Tay-Sachs Disease Children with juvenile hex A deficiency develop symptoms between the ages of 2 and 5 years that closely resemble the symptoms of the classical, infantile form. Though the course of the disease is slower, death generally occurs by age 15. Symptoms of chronic hex A deficiency also may begin by age 5, but are far milder than those that characterize the infantile and juvenile forms. Mental abilities, vision and hearing remain intact; but affected individuals develop slurred speech, muscle weakness, muscle cramps, tremors, unsteady gait and sometimes mental illness. Doctors have only recently discovered that symptoms of hex A deficiency may not begin until adulthood. Individuals with adult-onset hex A deficiency experience many of the same variable symptoms as individuals with chronic hex A deficiency, but symptoms begin later in life. You can take a blood test to see if you are a carrier. This test measures the amount of the hex A enzyme in your blood. Tay-Sachs carriers have about half as much of the enzyme as non-carriers, but this is plenty for the carrier's own needs. A blood sample also can be used to perform genetic testing. Doctors have recently developed tests that look for known mutations (changes) in the hex A gene that cause the four forms of Tay-Sachs disease. Genetic testing may be recommended if the results of the usual carrier screening test discussed above are uncertain. Genetic tests also can be used to diagnose late-onset forms of hex A deficiency. Tragically, there is no cure and no treatment that will prevent the disease from running its course. Affected children can only be made as comfortable as possible.

6. Tay-Sachs Disease / Family Village Library Who to Contact. Where to Go to Chat with Others. Learn More About It. Web Sites. Search Google for "taysachs disease" Who to Contact. National Tay-Sachs and Allied Diseases Association. 2001 Beacon http://www.familyvillage.wisc.edu/lib_tays.htm

Tay-Sachs Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Tay-Sachs Disease" Who to Contact National Tay-Sachs and Allied Diseases Association 2001 Beacon Street, Suite 204 Brighton, MA 02135 Tel: 617-277-4463 800-90-NTSAD (906-8723) Fax: 617-277-0134 E-mail: info@ntsad.org http://www.ntsad.org/ Late-Onset Tay-Sachs Foundation P.O. Box 5 Flourtown, PA 19031-0005 Phone: 1-800-672-2022 In PA: 1-215-836-9426 Fax: 1-215-836-5438 E-mail: lotsf@verizon.net Web: http://www.lotsf.org/ The Late Onset Tay-Sachs Foundation is dedicated to the needs of people with this condition. LOTSF has a threefold mission: to provide support to affected people and their families; to educate the medical and lay communities about the condition; and to support relevant research projects. Where to Go to Chat with Others The Genetic Disease Mailing List This list is a means of networking and communication for individuals concerned with the various genetically-transmitted diseases existing within Jewish populations. Everyone is invited to participate, however, because diseases common among Jewish people may, and almost always do, affect individuals from all of the world's cultural and ethnic groups. Learn More About It Tay-Sachs Disease Information Page From the National Institute of Neurological Disorders and Stroke at the National Institutes of Health What is Late Onset Tay-Sachs?

7. Tay-Sachs Disease/other taysachs disease and other conditions. Sandhoff Disease, Fabry Health Information Center. tay-sachs disease Information Sheet, March of Dimes. Tay Sachs Disease, National Organization http://www.kumc.edu/gec/support/tay-sach.html

Tay-Sachs Disease and other conditions Sandhoff Disease, Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Canavan Disease, disorders of lipid and sphingloid degradation, mucopolysaccharide degradation, glycoprotein degradation, lysosomal storage, non-lysosomal diseases, and storage disorders 2001 Beacon Street, Suite 204 Brookline, MA 02135 Phone: 800-906-8723 or (617) 277-4463 Fax: 617-277-0134 Email: NTSAD-Boston@worldnet.att.net Web site: http://www.ntsad.org Late-Onset Tay-Sachs Foundation 1303 Paper Mill Road Erdenheim, PA 19038 Phone: 1-800-672-2022 or 1-215-836-9426 National Foundation for Jewish Genetic Disease, Inc. 250 Park Ave, Suite 1000 New York, NY 10017 Phone: (212) 371-1030 Also See: National organizations genetic conditions or birth defects National Health Information Center Tay-Sachs Disease Information Sheet , March of Dimes Tay Sachs Disease , National Organization for Rare Disorders Tay-Sachs Disease , National Institute of Neurological Disorders and Stroke, National Institutes of Health Late Onset Tay-Sachs , Massachusetts General Hospital Canavan disease To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments

8. Show HD Leaflets A description along with prognosis and treatment of this disease. http://www.healthtouch.com/bin/EContent_HT/showAllLfts.asp?lftname=NINDS201&

9. Ashkenazi Jewish Genetic Disease Screen Information about a test for seven common inherited diseases in the Ashkenazi Jewish population taysachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome, familial dysautonomia and Fanconi anemia. http://cfar-www.med.nyu.edu/genetics/lab/ashkenazi_screen.html

DEPARTMENTS DIRECTORY ADVANCED SEARCH SCHOOL HOME ... Specimen Requirements Molecular Genetics Testing Laboratory Ashkenazi Jewish Genetic Disease Screen The Importance of Genetic Screening for Ashkenazi Jewish People. See the video: Genetic Screening Video real player needed The Ashkenazi Jewish Genetic Disease Screen tests for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease Bloom syndrome , Familial dysautonomia and Fanconi anemia. Among Ashkenazi Jews, the carrier frequencies and disease incidences for each of these has been estimated to be 1:25 and 1:3000 for Tay-Sachs disease; 1:30 and 1:3600 for cystic fibrosis; 1:40 and 1:6400 for Canavan disease; 1:15 and 1:900 for Gaucher disease 1:100 and 1:10,000 for Bloom syndrome , 1:30 and 1:3600 for Familial dysautonomia and 1:80 and 1:6,400 for Fanconi anemia. The Molecular Genetics Laboratory performs multiplex assays to screen for all seven diseases in individuals at risk. Note: This screen is most appropriate for people who are Ashkenazi Jews. This screen is not appropriate for individuals from other ethnic backgrounds. Those individuals should use other testing approaches to assess their carrier risk for these diseases. Contact the laboratory to determine appropriate testing for individuals of mixed heritage.

10. Medical References: Tay-Sachs Disease Quick Reference and Fact Sheets. taysachs disease What Is tay-sachs disease? tay-sachs disease is a fatal inherited disease of the central nervous system. http://www.marchofdimes.com/professionals/681_1227.asp

View All Chapters Find Your Local Chapter June 2, 2004 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick Reference and Fact Sheets Tay-Sachs Disease What Is Tay-Sachs Disease? Tay-Sachs disease is a fatal inherited disease of the central nervous system. The most common form of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme (protein) called hexosaminidase A (hex A) necessary for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5. Who Is at Risk of Tay-Sachs Disease?

11. Tay-Sachs Disease GeneClinics a medical genetics resource. Search. This book All books PubMed. Genes and Disease PDF Document Nutritional and Metabolic Diseases taysachs disease http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

12. Tay Sachs Disease - Information And Support Resources , NeimanPick. ?, tay-sachs disease. ?, Ulcerative Colitis. Interactive ?. ?, Jewish Genetic Diseases Boards. tay-sachs disease. http://www.mazornet.com/genetics/tay-sachs.asp

Jewish Genetic Diseases A Mazornet Guide VISIT MazorNet's other Jewish Guides The MazorNet-Jewish Celebrations Kosher Restaurant Guide The MazorNet- Jewish Celebrations Vendor Directory ( ... Photographers, Kosher Caterers, Bridal Gowns, and Much More) Important Information Home Page Genetic Counseling and Screening Genetic Screening Laboratories - A Directory A Brief Key to Basic Genetic ... s Select Disorder Bloom's Syndrome Breast and Ovarian Cancers Breast Cancers - Prevention and Resources Canavan Disease ... Ulcerative Colitis Recommended Reeading Genetic Diversity Among Jews - Diseases and Markers at the DNA Level Provides an authoritative, up-to-date account of the impact of molecular genetics on our understanding of genetic diseases prevalent among Jews. Jewish Genetic Disorders : A Layman's Guide Guide to genetic disorders that tend to affect the Jewish population more than the non-Jewish, including a short history of the Jews and basic facts concerning genetics and genetic disorders. Interactive Jewish Genetic Diseases Boards Tay-Sachs Disease Tay-Sachs disease, the most well known Jewish genetic disease, is an inherited metabolic disorder. The basic defect in affected children is the deficiency of an enzyme, hexosaminidase A. Without Hex A, a fatty substance called GM2 ganglioside accumulates abnormally in cells especially in nerve cells of the brain. This continual accumulation causes progressive damage to the cells. There are two forms of this disease, the well known infantile-onset form and a lesser known, late-onset or adult form designated "chronic GM2-gangliosidosis".

13. Tay-Sachs Disease - Learn More From MedlinePlus Find the latest news stories, overviews, research and more on taysachs disease from MedlinePlus, the National Library of Medicine's consumer health site. http://rdre1.inktomi.com/click?u=http://www.nlm.nih.gov/medlineplus/taysachsdise

14. National Tay-Sachs & Allied Diseases Association Of Delaware Valley (NTSAD-DV) taysachs disease Canavan Disease Testing Information NTSAD-DV Services Donations Support Medical Advances About NTSAD Contact Us, site by DesertElements.com, http://www.tay-sachs.org/

site by DesertElements.com

15. Tay-Sachs Disease taysachs disease is a hereditary metabolic defect. tay-sachs disease. tay-sachs disease is a hereditary metabolic defect An infant affected with tay-sachs disease may appear normal and healthy at birth http://www.tylermedicalclinic.com/tay-sachs disease.htm

The Tyler Medical Clinic Assisted Conception - Affordable Infertility Treatments - List of Diseases - Tay-Sachs Disease Tay-Sachs Disease is a hereditary metabolic defect. Individuals affected with Tay-Sachs lack the enzyme hexosaminidinase-A, the enzyme responsible for fat metabolism in the brain. Absence of this enzyme results in the accumulation of fat in the brain and leads to in irreversible nerve damage. An infant affected with Tay-Sachs Disease may appear normal and healthy at birth. Symptoms generally do not appear until the 3rd-6th month. Once symptoms appear, progression of the disease is rapid. A majority of children affected live only up to their fifth year. Most cases of Tay-Sachs Disease occur among infants. Clinical features of Tay-Sachs Disease include loss of response to the environment, blindness, mental deterioration, paralysis and epileptic seizures. An early sign for Tay-Sachs Disease is the appearance of a cherry-red spot on the retina of the eye. There is no known cure nor is there an effective treatment for Tay-Sachs Disease. Much of the efforts is geared towards making the child with Tay-Sachs Disease as comfortable as possible. Diets of children affected are strictly monitored to ensure that they are getting the sufficient nutrients. There have been some cases of adult onset of Tay-Sachs Disease as well. Symptoms of this include an unsteady gait (ataxia), inability to move smoothly (dysarthria), muscle weakness and recurrent psychosis. Adult onset of Tay-Sachs Disease is often misdiagnosed.

16. Tay-Sachs & Canavan Diseases :: What Is Tay-Sachs Disease? A baby with taysachs disease appears healthy at birth, and seems to be developing normally for a few months. WHY IS A BABY BORN WITH tay-sachs disease? http://www.tay-sachs.org/taysachs.php

A baby with Tay-Sachs disease appears healthy at birth, and seems to be developing normally for a few months. Symptoms generally appear by six months of age. While symptoms vary from one child to the next, there is always a slowing down of development. Gradually, Tay-Sachs children lose motor skills and mental functions. Over time, the child becomes blind, deaf, mentally retarded, paralyzed and non responsive to the environment. Tay-Sachs children usually die by age five. Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A). Hex-A is needed for the body to break down a fatty waste substance found in brain cells. Without Hex-A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life. WHY IS A BABY BORN WITH TAY-SACHS DISEASE? Tay-Sachs is an inherited disease that only occurs when both parents carry a Tay-Sachs gene and each parent transmits the defective gene to their child. A child who inherits two Tay-Sachs genes (one from each parent) produces no functional Hex-A enzyme and is certain to develop Tay-Sachs disease. A person with only one Tay-Sachs gene is perfectly healthy, but is a Tay-Sachs carrier. When both parents are carriers, there is a 1 in 4 (25%) chance, with every pregnancy, of having a child with Tay-Sachs disease.

17. Medical References: Tay-Sachs Disease taysachs disease is a fatal inherited disease of the central nervous system. Affected babies lack an enzyme necessary for breaking down certain fatty substances in brain and nerve cells. These http://www.modimes.org/professionals/681_1227.asp

View All Chapters Find Your Local Chapter June 2, 2004 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick Reference and Fact Sheets Tay-Sachs Disease What Is Tay-Sachs Disease? Tay-Sachs disease is a fatal inherited disease of the central nervous system. The most common form of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme (protein) called hexosaminidase A (hex A) necessary for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5. Who Is at Risk of Tay-Sachs Disease?

18. MedlinePlus: Tay-Sachs Disease taysachs disease. Printer-friendly version, E-mail this page to a friend. Search MEDLINE for recent research articles on • tay-sachs disease. http://www.nlm.nih.gov/medlineplus/taysachsdisease.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Tay-Sachs Disease Contents of this page: From the NIH General/Overviews Prevention/Screening Genetics ... Information from the Medical Encyclopedia Search MEDLINE for recent research articles on Tay-Sachs Disease You may also be interested in these MedlinePlus related pages: Brain and Nervous System Genetics/Birth Defects From the National Institutes of Health Learning About Tay-Sachs Disease (National Human Genome Research Institute) Tay-Sachs Disease (National Institute of Neurological Disorders and Stroke) - Short Summary General/Overviews Tay-Sachs Disease (March of Dimes Birth Defects Foundation) Also available in: Spanish Prevention/Screening Tay-Sachs, Gaucher, and Canavan Disease (American Association for Clinical Chemistry) Specific Conditions/Aspects Sandhoff Disease (National Institute of Neurological Disorders and Stroke) - Short Summary Genetics Genetics Home Reference: Tay-Sachs disease (National Library of Medicine) Genes and Disease: Tay-Sachs Disease (National Center for Biotechnology Information) Organizations National Institute of Neurological Disorders and Stroke Information from the Medical Encyclopedia Tay-Sachs Disease Tay-Sachs disease Health services in: Missouri North Carolina Other states coming - learn more The primary NIH organization for research on Tay-Sachs Disease is the National Institute of Neurological Disorders and Stroke Health Topics Drug Information Encyclopedia ... U.S. National Library of Medicine

19. MedlinePlus Medical Encyclopedia: Tay-Sachs Disease taysachs disease. Definition. tay-sachs disease is a familial disorder found predominantly in Ashkenazi Jewish families that results in early death. http://www.nlm.nih.gov/medlineplus/ency/article/001417.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Tay-Sachs disease Contents of this page: Definition Causes, incidence, and risk factors Symptoms Signs and tests ... Prevention Definition Tay-Sachs disease is a familial disorder found predominantly in Ashkenazi Jewish families that results in early death. Causes, incidence, and risk factors Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue). These gangliosides, particularly ganglioside GM2, then accumulate in the brain, causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene, and 1 in 25 members of the Ashkenazi Jewish population carries the gene. Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear. The majority of people with Tay-Sachs have infantile forms. Symptoms generally begin to appear when the child is 3 to 6 months old. The disease tends to progress rapidly, and the child usually dies by the age of 4 or 5 years.

20. Tay-Sachs Disease Hub taysachs disease is a heritable metabolic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in http://www.genomelink.org/taysachs/

Tay-Sachs disease is a heritable metabolic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes. The condition is caused by insufficient activity of an enzyme called hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures hexosaminidase A activity. Acne Allergy Antibiotics Antioxidants ... NINDS Tay-Sachs Disease Information Page - by The National Institute of Neurological Disorders and Stroke, National Institutes of Health. UMMC - Tay-Sachs Disease - from University of Michigan Health System. Tay-Sachs Disease from NCBI Tay-Sachs: DNA Technology is the future of diagnosis - by Michael Frye. Tay-Sachs disease by MEDLINEplus - updated by Jonathan Fanaroff, M.D., Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, OH. Tay-Sachs disease by The National Foundation for Jewish Genetic Diseases Tay-Sachs Disease: Testing a Popoulation at Risk - by Lisa A. Lombard, Amherst College.

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