21. Krabbe Disease krabbe disease (also called Globoid Cell Leukodystrophy). Synonym(s) Globoid Cell Leukodystrophy. What is Krabbé Disease? Krabbé http://www.clevelandclinic.org/health/health-info/docs/1200/1293.asp?index=6039&

22. Krabbe Disease - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List krabbe disease. Advanced Search. Most (8590%) patients with krabbe disease have the infantile form. http://www.medterms.com/script/main/art.asp?articlekey=21076

23. CCHS Clinical Digital Library krabbe disease Clinical Resources. Miscellaneous krabbe disease Clinical Resources Health Reviews for Primary Care Providers on the Internet Homepage http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingoli

Clinical Resources by Topic: Metabolic Disorders Krabbe Disease Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources ... Krabbe Disease Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document The Leukodystrophies: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult):

24. CCHS Clinical Digital Library Patient/Family Resources by Topic Metabolic Disorders. krabbe disease Patient/Family Resources. Spanish Miscellaneous. krabbe disease Clinical Resources. http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphing

Patient/Family Resources by Topic: Metabolic Disorders Krabbe Disease Patient/Family Resources Spanish Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Krabbe Disease Clinical Resources National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Krabbe Disease: Access document United Leukodystrophy Foundation: Homepage Introductions to the Leukodystrophies: Access document Krabbe Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Krabbe Disease: English Spanish Spanish MEDLINE plus Medical Encyclopedia: Table of contents Krabbe Disease: English Spanish Miscellaneous Krabbe Disease Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Leukodystrophy: Access document 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.

25. Central Nervous System Diseases krabbe disease (Globoid Cell Leukodystrophy) mini factsheets NINDS. About krabbe disease - OMIM, NCBI (US). The Miracle of Life (Krabbe s Disease) D T Shell. http://www.mic.ki.se/Diseases/C10.228.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Central Nervous System 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: Adrenoleukodystrophy Alzheimer Disease Arachnoiditis Brain Abscess ... Zellweger Syndrome Central Nervous System Diseases Nerve Cells [Lodish et al.] - Molecular Cell Biol., Chap 21, via NLM (US) Pathol. Images of the Central Nervous System - Univ of Utah (US) The Human Brain [JD MacArthur] The Global Brainstem '97 , the Cerebellum '97 , the Thalamus '97 , the Spinal Cord '97 - Univ. of Wisconsin (US) Mental Disorders Links Brain Diseases Brain Functions and Map - Centre for Neuro Skills The Whole Brain Atlas - Atlas Project/Harvard Medical School et al. (US) Dissections of the Real Brain [Williams et al] - Univ of Iowa (US) Anatomy of the Brain - AANS Leukodystrophy (not on MeSH) Leukodystrophy - NINDS The United Leukodystophy Foundation , including

26. Krabbe Disease - Genetics Home Reference krabbe disease. What is krabbe disease? krabbe disease is a degenerative disorder that affects the nervous system. How common is krabbe disease? http://ghr.nlm.nih.gov/condition=krabbedisease

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Krabbe disease Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog Krabbe disease What is Krabbe disease? Krabbe disease is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in a shortage of myelin, the covering that insulates many nerves. Krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin. Krabbe disease usually begins before the age of 1 year (early-onset form). Less commonly, onset can occur in late childhood, adolescence, or adulthood (late-onset form). How common is Krabbe disease?

27. Krabbe Disease - Sources For This Page - Genetics Home Reference krabbe disease. Back to condition summary. krabbe disease. Sources for this page. These resources supplement the information in the http://ghr.nlm.nih.gov/condition=krabbedisease/show/Sources for this page

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Krabbe disease Back to condition summary Krabbe disease Sources for this page These resources supplement the information in the Genetics Home Reference condition summary on Krabbe disease. Gene Review: Krabbe Disease National Institutes of Neurological Disorders and Stroke ... Review. Last Comprehensive Review: February 2004 Updated: April 1, 2004 Published: May 28, 2004 This is a page from Genetics Home Reference Contact Us Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine ... Accessibility

28. Krabbe 1Up Health krabbe disease or Globoid Cell Leukodystrophy Info - Details the causes, signs, complications, prevention, risks, tests, symptoms, treatment, and http://www.health-nexus.com/krabbe1.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Krabbe Krabbe's Family Network The area most affected by this is the central nervous system. The CNS controls such things as Breathing, body temperature, and all other automatic body functions are controlled by the CNS. There are two types of Krabbe's. Most common is the infantile form. The second type affects children and adults. Krabbe's Kids Browse through a gallery of photos, stories and bios of children diagnosed with the fatal disease known as Krabbe's leukodystrophy. ... Toi Imamure. Krabbe. Demographic. Study. sponsored by. Hunter's... 1Up Health - Krabbe Disease or Globoid Cell Leukodystrophy Info Details the causes, signs, complications, prevention, risks, tests, symptoms, treatment, and support groups of this galactosylcereamidase deficiency.

29. Krabbe Disease More krabbe disease Categories » Submit Your Site to the krabbe disease category. Submit Your Site to the krabbe disease category. Sponsored Results. http://www.iseekhealth.com/krabbe_disease-2012.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Neurological Disorders ... Krabbe Disease More Krabbe Disease Categories: Submit Your Site to the Krabbe Disease category Hunter's Hope - Was formed in September 1997, after their infant son, Hunter, was diagnosed with Krabbe disease (Globoid-Cell Leukodystrophy). To date they have raised over two million dollars to further research on Krabbes and other Leukodystrophies. Krabbe Disease - A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. Krabbe's Family Network - The area most affected by this is the central nervous system. The CNS controls such things as Breathing, body temperature, and all other automatic body functions are controlled by the CNS. There are two types of Krabbe's. Most common is the infantile fo Submit Your Site to the Krabbe Disease category Sponsored Results Health Spotlight List Your Site Here Today! Lab Tests Online @ YourLabTest.com Risk-free lab tests and screens on many common cancers and diseases. Why risk your health? Have your lab test results within 48 hours.

30. Krabbe Disease List Your Site Here Today! Lab Tests Online. @ YourLabTest.com Riskfree lab tests and screens on many common cancers and diseases. Why risk your health? http://www.iseekhealth.com/index.php?method=show_submit_site&directory_id=2012

31. ► Krabbe Disease Home Medical Reference Encyclopedia (English) Toggle English / Spanish krabbe disease. krabbe disease is inherited as an autosomal recessive trait. http://www.umm.edu/ency/article/001198.htm

Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Krabbe disease Overview Symptoms Treatment Prevention Definition: Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (i.e., galactosylcereamidase) and resulting 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, incidence, and risk factors: Krabbe disease is inherited as an autosomal recessive trait. It has a higher incidence 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 . The end result is a progressive destruction of the nervous system. Krabbe disease, like many other storage diseases, 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, and

32. The DRM WebWatcher: Krabbes Disease Here are some resources for information and help. krabbe disease Technical information from Online Mendelian Inheritance in Man (OMIM). http://www.disabilityresources.org/KRABBES.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Krabbe Disease Updated 12/17/2003 A B C D ... About/Hint/Link A form of leukodystrophy , Krabbes disease is a rare genetic disorder of the central and peripheral nervous systems. This condition has become more widely known since football hero Jim Kelly had a child with Drabbes disease. Here are some resources for information and help. Krabbe Disease Technical information from Online Mendelian Inheritance in Man (OMIM). Krabbes Disease Homepage (CJ's site) This web site of the parents of a child with Krabbes disease includes information about Krabbe's disease (including downloadable documents), support and suggestions for other parents, family information and photos, and links. Krabbe's Family Network Although the owner/author of this nicely designed web site is anonymous, which is often a cause for concern, it seemed to meet its stated goal of creating "a free, accessible support network and resource guide for any parent or family in need of information or assistance while dealing with Krabbe Leukodystrophy." The pages include information about Krabbe disease, a message board, family stories, links, and tips. Related subjects: Leukodystrophy Rare Disorders Resources in your state (c) 1997-2000 Disability Resources, inc.

33. KRABBE DISEASE: Contact A Family - For Families With Disabled Children: Informat printer friendly, krabbe disease, krabbe disease is a rare genetic, degenerative disorder of the nervous system. It is one of a group http://www.cafamily.org.uk/Direct/k24.html

printer friendly KRABBE DISEASE home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Krabbe disease is a rare genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies. The term leukodystrophy comes from the Greek words, 'leuko' meaning white, and referring to the 'white matter' of the nervous system. This is a fatty cover which acts as an insulator around nerve fibres of the brain. The word 'dystrophy' means imperfect growth or development. In Krabbe disease the growth of the white matter (otherwise known as myelin sheath) is affected. Each nerve in the body is surrounded by myelin sheath. This transmits the electrical impulses to every other nerve in the body. Myelin sheath is a made up of a number of chemicals and Krabbe disease is caused by reduced activity of an enzyme known as galactocerebrosidease (GALC). This enzyme is coded for by a gene on chromosome 14. In addition to the infantile form of Krabbe disease, there are also juvenile and adult forms. Although older infants and juveniles with the disorder regress at an unpredictable rate, all will become severely incapacitated. Some adolescents and adults have symptoms confined to weakness, without intellectual deterioration, others become bedridden and continue to deteriorate mentally and physically. Adults may present with loss in manual dexterity, burning paraesthesia (numbness or tingling) in extremities, weakness and dementia. It is nearly impossible to predict the life expectancy of a newly diagnosed older infantile, juvenile, adolescent or adult patient.

34. Krabbe Disease- Medcohealth.com krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside betagalactosidase (galactosylcereamidase). http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

35. Leukodystrophy, Krabbe's various causes, WiskottAldrich Syndrome, Chronic Granulomatous Disease, Alpha Thalassemia, Hurler Syndrome, Metachromatic Leukodystrophy and krabbe disease. http://www.bchealthguide.org/kbase/nord/nord379.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord379"; var hwDocTitle="Leukodystrophy, Krabbe's"; var hwRank="1"; var hwSectionHWID="nord379"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Leukodystrophy, Krabbe's 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 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 Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Adrenoleukodystrophy Canavan's Leukodystrophy Metachromatic Leukodystrophy Alexander's Disease General Discussion Symptoms Onset of Krabbe's Leukodystrophy in the predominant infantile form (90% of cases) occurs between one and seven months of age. A late-onset form of the disorder occurs at 18 months or a later age, including adolescence and adulthood.

36. Krabbe Disease Genetic Diseases Neurological. krabbe disease. Defective disease. krabbe disease. What is krabbe disease? krabbe disease is a leukodystrophy. http://tjsamson.client.web-health.com/web-health/topics/GeneralHealth/generalhea

Neurological Krabbe Disease Defective galactocerebroside beta-galactosidase enzyme results in destruction of myelin in patients with a rare form of leukodystrophy called Krabbe disease. Krabbe Disease What is Krabbe disease? Krabbe disease is a leukodystrophy . Leukodystrophy is a general medical term that applies to a number of similar diseases. It describes related symptoms that occur because the myelin that is supposed to insulate neurons in the brain either: Develops Improperly or Is Destroyed Prematurely. What causes that leukodystrophy? A defect in the enzyme galactocerebroside beta-galactosidase (also called galactosylcerebrosidase) is responsible for the destruction of the myelin in a patient with Krabbe disease. The defect is inherited. Is Krabbe disease rare? Yes. It is a recessive condition (that is, two defective copies of the gene are needed in order to cause the disease). Only 1 out of every 150,000 babies born has Krabbe's disease. What happens to people with Krabbe disease? Patients with Krabbe disease exhibit: Abnormal Muscle Tone Initially, absence of ("hypotonia")

37. Krabbe's Disease krabbe disease. krabbe disease This one is odd. We have seen such a wide spectrum of cases with this diagnosis that one wonders if http://www.pediatric-orthopedics.com/Topics/Muscle_Neuro/Diseases/KRABBE_DISEASE

Krabbe Disease Krabbe Disease This one is odd. We have seen such a wide spectrum of cases with this diagnosis that one wonders if the details are as worked out as the literature would have you believe. The defect is in galactos yl ceramid ase I, an enzyme which removes the sugar called galactose from galactosyl sphingosine . Look at the Lipids and Membranes sections to get a feel for how utterly basic to cell membrane function these substances are. The differing tweaks of similar phospholipids - tall oil molecules wearing a water seeking cap. In the case of Krabbe Disease, the defect is even more damaging than an absence of one of many variations on a membrane oil. The defect disallows a specific substance (called by many names including psychosine ) to build up. That substance is cell toxic and causes cells to die. Irritability, sustained muscle tone in the first year of life are typical. But there are late diagnoses as well. Fevers without apparent cause are also seen. We have seen children with the diagnostic enzyme defect who are relatively well save for some 'heel cord' contracture similar to mild spastic diplegia. Perhaps there are mixes or percentage of involved cell population issues. The general experience is usually far more serious.

38. The Family Village / Library / Leukodystrophy Canavan Disease From Online Mendelian Inheritance in Man (OMIM). Canavan s Disease From PEDBASE. krabbe disease From Online Mendelian Inheritance in Man (OMIM). http://www.familyvillage.wisc.edu/lib_leukodystrophy.html

Leukodystrophy Types of Leukodystophy: Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Leukodystrophy" Who to Contact United Leukodystrophy Foundation (ULF) 2304 Highland Drive Sycamore IL 60718 (815) 895-2432 (fax) E-mail: ulf@tbcnet.com Website: http://www.ulf.org/ This is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease. In addition, it provides assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness; acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. The ULF is supported solely by donations. Where to Go to Chat with Others ULF List of Online Discussion Groups Krabbes E-mail Contacts Inborn Errors of Metabolism Discussion Groups Learn More About It Adrenoleukodystrophy From PEDBASE Alexander Disease From Online Mendelian Inheritance in Man (OMIM) Canavan Disease From Online Mendelian Inheritance in Man (OMIM) Canavan's Disease From PEDBASE Krabbe Disease From Online Mendelian Inheritance in Man (OMIM) Krabbes Disease: Basic Information From the Krabbes Disease Homepage Metachromatic Leukodystrophy From PEDBASE

39. IRSC - Rare Disorders, Krabbe Disease Rare Disorders krabbe disease. IRSC Home Rare Disorders krabbe disease. Categories. http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca

40. OMIM - KRABBE DISEASE http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245200

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