81. Disease - Krabbe Disease - Detroit, Michigan Disease krabbe disease - courtesy of Henry Ford Health System of Detroit, Michigan. Back to main Health Information page Disease - krabbe disease. Definition http://www.henryfordhealth.org/12220.cfm

Health Encyclopedia Back to main Health Information page Disease - Krabbe disease Definition: Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (galactosylcereamidase). It results in destruction of myelin , a fatty material that surrounds and insulates many of the nerves. Alternative Names: Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency Causes And Risk: Krabbe disease is inherited as an autosomal recessive trait. It is most common among people of Scandinavian descent, but it generally affects about 1 in 150,000 infants. Absence of the enzyme galactocerebroside beta-galactosidase causes increasing destruction of myelin. This results in progressive destruction of the nervous system. Krabbe disease has an early onset form and a late onset form. In the early form, symptoms begin in the first months of life with feeding problems and failure to thrive , unexplained fevers, and vomiting. Changes in muscle tone are frequent.

82. 2718: Mutation Analysis Of Krabbe Disease And Metachromatic Leukodystrophy In Po Program Nr 2718 Mutation analysis of krabbe disease and Metachromatic Leukodystrophy in Portugal. AML Marcao, OMO Amaral, EM Pinto, MC Sa Miranda. http://www.faseb.org/genetics/ashg99/f2718.htm

Program Nr: 2718 Mutation analysis of Krabbe Disease and Metachromatic Leukodystrophy in Portugal. A.M.L. Marcao, O.M.O. Amaral, E.M. Pinto, M.C. Sa Miranda. Genetic Neurobiology, IBMC- Univ.of Porto, Porto, Portugal.

83. UB News Services Hunter s Hope Foundation, UB Establish Research Institute to Study krabbe disease, Related Conditions. Release date Friday, May http://www.buffalo.edu/news/fast-execute.cgi/article-print-page.html?article=673

84. Krabbe's Kids A demographics study of the families and children of krabbe's is taking place Please take a look at these other site's dedicated to krabbe's disease. http://www.krabbes.com/

This Page is dedicated to all of our children. Please follow the links below to learn about our terrific kids and learn what help is available. Trevor Leeker Dalton Shell Gina Rugari Mikey Torres Gaby Manzo Adam Haines Andres Herrera Judson Torkel Ella Hudson Jamie St. Clair Anthoney Foster Joshua Cross Matthew Shilling Leandra Frye John D'Amico Kelly Blades Minna Larsson Eden Benson Sydney Trader(MLD) Aubrey Claflin Anthony Mattina Raegan Moore Souta Iwamae Linda Claverie Freddie Place Daryn Jackson Breanna Arthurs Haley Sears Jhyrve Sears Anthony Shell Courtney Jo Rutherford Allie Julia Beatty Angela Maria Pitra Michelle Wright Rachell Jarrell Hunter Kelly Elijah Bonney Holli Startkweather Tanner Jurek-Plasky Megan Miles Liam Hammonds Melina Sevilla Makayla Lynn Pike Saschy Eichhorn Trevor Garbe Jason Forslind Logan Windley Ava Francisco Maddie Heflin Lucas Cole Nims Toi Imamure Olivia McCormick Degan Miles Dylan Kerdel Krabbe Demographic Study sponsored by Hunter's Hope Foundation Please fill out the demographics information by clicking the link above.

85. Krabbe's Disease Information Diseases Database krabbe's disease Galactosylceramidebeta-galactosidase deficiency Globoid cell leucodystrophy, disease Database Information http://www.diseasesdatabase.com/ddb29468.htm

Diseases Database Index Sponsors Contact ... Previous Page Krabbe's disease Information Search 3 synonyms or equivalents were found. Krabbe's disease aka/or Galactosylceramide-beta-galactosidase deficiency aka/or Globoid cell leucodystrophy may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Krabbe's disease: Definition(s) via UMLS Code translations and terms via UMLS Krabbe's disease: specific sites Send Krabbe's disease 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 23:34:00 Metadata Updated 2004-05-22

86. LSUSU Gene Therapy Program The Gene Therapy Program is located in the Department of Medicine and affiliated with the Stanley S. Scott Cancer Center and the Center for Human and Molecular Genetics at Louisiana State University Health Sciences Center at New Orleans. The major aim of the LSUHSC Gene Therapy Program is to develop new therapies for a series of genetic and acquired diseases including Cystic Fibrosis, Hemophilia, krabbe's disease and infectious diseases such as AIDS, TB, and pneumonia. http://www.medschool.lsumc.edu/GeneTherapy/Default.htm

87. Krabbe's Disease Browse entry words starting with 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, Other characters, krabbe s disease,. Print this article, http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/KRABBES DISEASE.

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Krabbe's disease, (Knud H. Krabbe,18851961, Danish neurologist), neurodegenerative disease associated with lysosomal galactocerebroside galactosidase deficiency. It is one of the leucodystrophies. Infants present clinically with irritability, pyrexia of unknown origin, hypertonia, feeding difficulty, or fits and progressive quadriparesis, become decerebrate and microcephalic. On imaging there is high signal intensity on the periventricular and cerebellar white matter on T2-weighted sequences. See globoid cell leukodystrophy HC The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

88. Krabbe's Disease (globoid Cell Leukodystrophy) - OhioHealth krabbe s disease is a rare, degenerative disorder of the nervous system, in which a specific enzyme deficiency results in the destruction of myelin, a fatty http://www.ohiohealth.com/healthreference/reference/2B1520EE-E635-426A-AC8865F6C

89. Krabbe's Disease (www.whonamedit.com) krabbe s disease An inborn neurodegenerative disorder of infancy due to the accumulation of galactocerebroside in the tissues. krabbe s disease http://www.whonamedit.com/synd.cfm/1457.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Krabbe's disease Also known as: Krabbe's syndrome I Krabbe's leukodystrophy Synonyms: Diffuse globoid body sclerosis, diffuse globoid cell cerebral scleroris, familial infantile diffuse brain sclerosis, galactocerebroside beta-galactosidase deficiency, galactosyl ceramide lipoidosis, galactosylceramide lipoidosis, globoid cell brain sclerosis, globoid cell cerebral sclerosis, globoid cell leukodystrophy, globoid cell sclerosis, globoid leukodystrophy, leukodystrophia cerebri. Associated persons: Knud Haraldsen Krabbe Description: An inborn neurodegenerative disorder of infancy due to the accumulation of galactocerebroside in the tissues. This is a result of a primary deficiency of galactocerebrosidase, the white matter of the brain, causing demyelination in the presence of inclusion bodies in the Schwann cells. The acute infantile form (90 percent of cases) is characterized by onset of symptoms before the age of 6 months and death by the end of first year of life, survival beyond 2 years being very rare. Clinically the child fails to thrive and develops seizures, deafness, blindness, cachexia, paralysis, and marked mental deficiency. The disease is assumed to be of genetical nature, but both dominant and recessive types have been described. There is also a rare juvenile and an adult form.

90. Leukodystrophy, Krabbe's Deficiency; Galactosylceramide Lipidosis; Galactosylceramidase Deficiency; krabbe s disease; Leukodystrophy, Globoid Cell; Sphingolipidosis http://my.webmd.com/hw/health_guide_atoz/nord379.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; 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 Leukodystrophy, Krabbe's Important It is possible that the main title of the report Leukodystrophy, Krabbe's 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 Galactocerebrosidase (GALC) Deficiency Galactocerebroside Beta-Galactosidase Deficiency Galactosylceramide Lipidosis Galactosylceramidase Deficiency Krabbe's Disease Leukodystrophy, Globoid Cell Sphingolipidosis, Krabbe's Type Globoid Cell Leukoencephalopathy Disorder Subdivisions None General Discussion Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This metabolic disorder is characterized by progressive neurological dysfunction such as mental retardation, paralysis, blindness, deafness and paralysis of certain facial muscles (pseudobulbar palsy). Krabbe’s Leukodystrophy is inherited as an autosomal recessive trait.

91. Globoid Cell Leukodystrophy (Krabbe S Disease) Globoid Cell Leukodystrophy (krabbe s disease). Clinical forms Children with krabbe’s disease have a more predictable course than with other leukodystrophy. http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNF5IE02.htm

Globoid Cell Leukodystrophy (Krabbe's Disease) NeuroLearn NeuroHelp Metabolic Lysosomal storage disorders, classification ... Gross Pathology BACKGROUND AND CLINICAL INFORMATION Head Summary: Globoid cell leukodystrophy (Krabbe’s disease, galactosylceramide lipidosis) is an autosomal recessive due to reduced lysosomal galactocerebroside b -galactosidase. The structural gene is on chromosome 14q24-q32. Both peripheral and central nervous systems are involved. Infantile onset is most common but later or adult onset cases have also been described. Clinically features vary with the age of onset. The infantile form is associated with death at 1-2 years of age. Pathologically , the brain is markedly atrophic and shows extensive demyelination associated with large, multinucleated cells (globoid cells). The white matter but not grey matter is predominantly affected. Crystalline needle-like inclusions that correspond to the globoid material are seen under electron microscope. Biochemistry: Mutation of the galactocerebrosidase gene result in reduced enzymatic activity and decreased ability to degrade galactocerebroside that is found almost exclusively in myelin.

92. Krabbe's Disease - General Practice Notebook krabbe s disease. krabbe s disease is an autosomal recessive disease caused by a deficiency of galactocerebroside B galactosidase http://www.gpnotebook.co.uk/cache/-1831862235.htm

Krabbe's disease Krabbe's disease is an autosomal recessive disease caused by a deficiency of galactocerebroside B galactosidase which results in an accumulation of galactocerebroside. The patient presents in the first 6 months of life with: rigidity instability decreased alertness Later, the child becomes blind and deaf. The disease is fatal within a year. Click here for more information...

93. GCL, Krabbe's Disease, Globoid Cell Leukodystrophy Globoid Cell Leukodystrophy GCL aka krabbe s disease by George Jones. Globoid Cell Leukodystrophy is a degenerative disease of the http://www.barkbytes.com/medical/med0073.htm

Globoid Cell Leukodystrophy GCL a.k.a. Krabbe's Disease by George Jones Globoid Cell Leukodystrophy is a degenerative disease of the white matter of the brain and spinal cord, and also tied in with this is the loss of myelin , which is a fatty substance that forms the outer sheath around many nerve cells. What causes this loss is a genetic deficiency of an enzyme that is involved in breaking down certain lipids (fats) in the brain and spinal cord. GCL has been seen in puppies as young as four weeks of age, and as late as five months. The disease progresses very rapidly, resulting in death usually within two to three months after the onset of the clinical signs of the disease. There is currently no treatment for GCL. The clinical signs for GCL are: loss of coordination, failure to recognize familiar individuals (people or other pets), stumbling, blindness, weakness, tail tremors, total limb paralysis, and lack of response to pain. GCL has been found primarily in the bloodlines of West Highland White Terriers and Cairn Terriers, although it has been detected among other breeds as well. It is imperative that breeding stock be checked for this condition due to its being autosomal recessive (genetically passed on from one generation to another). In order for any autosomal recessive characteristic to appear in an offspring, both parents must either be carriers, or have the recessive characteristic. A blood test can determine the carrier (s) of this disease.

94. Dictionary Definition Of KRABBE'S DISEASE disease. Medical dictionary. Browse Dictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A B C D E F G H I http://www.dictionarybarn.com/KRABBES-DISEASE.php

Dictionary definition of KRABBE'S DISEASE Browse Dictionary by alphabet A B C D ... Z Top Words Kr kra kra-kra Krabbe's disease ... kreotoxin Synonym: Krabbe leukodystrophy Please select first two letters of word you are looking for KA KB KC KD ... KZ fiSearchFormMaxSetId='AX006027'; Top Words Kretschmann's space Kretschmann, Friederich Kreysig's sign Kreysig, Friedrich ... Home Sponsored By: Indiana Car Rentals Iowa Car Rentals Kansas Car Rentals

95. Looking For Info. On Krabbe S Disease Looking for info. on krabbe s disease. This article submitted by on 1/14/99. Email Address Any info. would be greatly appreciated. http://neuro-www.mgh.harvard.edu/forum/MitochondrialDis.F/1.14.994.59PMLookingfo

Looking for info. on Krabbe's Disease This article submitted by on 1/14/99. Email Address: Any info. would be greatly appreciated. Next Article Previous Article Return to Neurological Disorder Topic Menu Here is a list of responses that have been posted regarding this article... Krabbe disease (1/14/99) 5:37 PM Post on Leukodystrophy.......... (1/14/99) 5:13 PM If you want to post a completely new article on any topic you like, click here. If you would like to post a direct response to this article, fill out this form completely... Response Title: Name: Email: Remember that your Name and Email Address are optional...you don't have to enter them! You can remain completely anonymous if you like by leaving these fields empty. Response Text: Click HERE to return to the main Neurology WebForum Homepage. These forums are maintained by the Department of Neurology at Massachusetts General Hospital John Lester - Webspinner

96. Health.iafrica.com | Doc Online | Ask The Doctor | Genetic Illness Krabbe's Dise GENETIC ILLNESS krabbe s disease Posted Tue, 30 May 2000. Question. What is krabbe s disease? Answer. krabbe s disease is one http://health.iafrica.com/doconline/qa/genetic/krabbes_disease.htm

Communities: [ h o m e ] Africa Afrikaans Aids Wise Business Cars Careers Cooltech Dating Easy Money Festive Fever Entertainment Fun Stuff Games Highlife Men Motoring My Money News Sport Talk Travel Weather Win Women Services: Book Airtickets Car Hire Chat Online Classifieds Directories Ecards Homeloans Mobile Magic myiafrica.com Shop Online Search Thu, 03 Jun 2004 DIET AND HEALTH DOC ONLINE allergies breast cancer ... SPRING SPECIAL You are in: Doc Online Ask The Doctor Genetic Illness ASK THE DOCTOR allergies blood diseases cancer cardiac diseases ... skin disorders GENETIC ILLNESS Krabbe's disease Posted Tue, 30 May 2000 Question What is Krabbe's disease? Answer Krabbe's disease is one of a rare, inheritable group of diseases known as lipidoses, which are disorders of lipid metabolism due to deficiencies in the enzymes which digest lipids. Others include Tay-Sachs Disease, generalised gangliosidosis and sulfatide lipidosis. Krabbe's disease, also known as galactosylceramide lipidosis, is a fatal disease, which occurs in infancy. The symptoms are progressive retardation, paralysis, blindness and deafness. It is due to a deficiency of the enzyme galactocerebroside ß-galactosidase. These can be tested for prenatally by sampling amniotic fluid or the chorionic villi. There is no treatment yet known. [an error occurred while processing this directive] PRIVATE LABEL FEEDBACK ABOUT US HOSTING ... Terms and Conditions

97. Brain And Tissue Bank For Developmental Disorders Developmental Disorders, Links to Summaries for Disorder krabbe s disease. UMB ID , AGE. UMB_0575, 1 year 144 days. UMB_1163, 39 years 107 days. http://medschool.umaryland.edu/BTBank/Krabbe's_Disease.htm

UNIVERSITY OF MARYLAND School of Medicine Brain and Tissue Bank Links to Summaries for Disorder: Krabbe's Disease UMB ID# AGE 1 year 144 days 39 years 107 days

98. Nation's Restaurant News: Hunter's Hope Foundation Helps Fight Krabbe's Disease You are Here Articles Nation s Restaurant News August 21, 2000 Article. Hunter s Hope Foundation helps fight krabbe s disease. http://www.findarticles.com/cf_dls/m3190/34_34/64704047/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Business Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles Nation's Restaurant News August 21, 2000 Content provided in partnership with Print friendly Tell a friend Find subscription deals Hunter's Hope Foundation helps fight Krabbe's disease Nation's Restaurant News August 21, 2000 BUFFALO, N.Y. A week-long fundraiser at the Buffalo Wild Wings Grill and Bar on Transit Rd. here, raised $1,640 for Hunter's Hope Foundation, a non-profit group created by NFL Buffalo Bills celebrity quarterback Jim Kelly to fund research and therapy for Krabbe's disease. The mid-July event featured an appearance by Kelly who autographed memorabilia for fans and judged the restaurant's Cluck-Off" wing-eating contest. The amount raised came from a portion of sales for the week as well as revenue from the sale of paper pin-up footballs, according to general manager Bob Sikorski. IN all publications this publication Business Automotive Business Computing Entertainment Health News Reference Sports About Us Advertise with Us Advertiser Log-in Terms of Service

99. Krabbes Disease Homepage (CJ's Page) elcome to our site! This site is devoted to our son CJ and all the other children with Krabbes disease. CJ was diagnosed with Krabbes http://members.aol.com/GETINMERRY/krabbes.html

elcome to our site! This site is devoted to our son CJ and all the other children with Krabbes disease. CJ was diagnosed with Krabbes at 5 months old; he is now 6 1/2 years old. We are Chuck, Jenn and CJ. 3 1/2 years ago we were blessed with a beautiful daughter we named Samantha. Samantha was tested for Krabbes and found to be a carrier but not affected. We live just outside Buffalo, NY. We both work full time jobs, but different shifts so one of us is always home with CJ. We have never been away from CJ for more than a few hours because child care is nearly impossible to obtain. CJ is an unusual case; he is extremely old for an infantile case of Krabbes. Basic Information Our Story Hints and Tips 1 Hints and Tips 2 ... Favorite Links Please note: Email us here Updated 1-22-02 You are the visitor to see CJ!

100. Call Again Soon Call Again Soon TM. Leukodystrophy is killing my son Joey. He has neonatal adrenoleukodystrophy. It stole all of his sight and most http://www.ziplink.net/~pepe/Leuko.htm

Call Again Soon TM Leukodystrophy is killing my son Joey. He has neonatal adrenoleukodystrophy. It stole all of his sight and most of his hearing by the time he was eighteen months old. The Call Again Soon is dedicated to Joey. We encourage the exchange of information about the Leukodystrophies. We invite you to submit URL's relating to Leukodystrophy for inclusion in this site. Chemical Leukodystrophy Best Source for Deaf-Blind Information Great Medical Links Leukodystrophy Info from FamilyVillage ... Myelin Project Leave E-Mail for Joe Johnson

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