41. Krabbe Disease Receive HealthLink via email! Subscribe now . krabbe disease. krabbe disease isa rare, degenerative disorder of the central and peripheral nervous systems. http://oci.mcw.edu/article/921771775.html

Search: search tips Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Krabbe Disease Krabbe disease is a rare, degenerative disorder of the central and peripheral nervous systems. It is one of a group of genetic disorders called the leukodystrophies that affect the growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. Symptoms vary in prevalence and severity among patients and may include loss of previously attained developmental skills, unexplained fevers, irritability, myoclonic seizures (sudden, shock-like contractions of the limbs), blindness, spasticity (stiffness of the limbs), and paralysis. Prolonged weight loss may occur also. Onset of the disorder generally occurs at 3 to 6 months of age. Although there is no cure for Krabbe disease, bone marrow transplantation is being studied as a possible therapy for mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. The prognosis for individuals with Krabbe disease is poor. The disorder is generally fatal before age 2.

42. UASOM Main Digital Library Patient/Family Resources by Topic Metabolic Disorders. krabbe diseasePatient/Family Resources. krabbe disease Clinical Resources. http://uasom-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphin

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 National Organization for Rare Disorders: Homepage Rare Diseases Database: List of documents Krabbe Leukodystrophy: 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.

43. Welcome To ENH.org - Health Encyclopedia: Krabbe Disease krabbe disease. Causes, incidence, and risk factors krabbe diseaseis inherited as an autosomal recessive trait. It has a higher http://www.enh.org/Encyclopedia/ency/article/001198.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Krabbe disease Disease Injury Nutrition Poison ... Z 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

44. Krabbe's Disease krabbe disease. krabbe disease This one is odd. We have seen sucha 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.

45. Krabbe Disease krabbe disease. 4/27/00. Click here to start. Table of Contents. krabbe disease.PPT Slide. PPT Slide. PPT Slide. Symptoms. PPT Slide. PPT Slide. PPT Slide. http://www.gallik.mwc.edu/Biol451/Biol451_Mayes/

Krabbe Disease Click here to start Table of Contents Krabbe Disease PPT Slide PPT Slide PPT Slide ... PPT Slide Author: Sandra Mayes

46. References For Krabbe's Disease References for Krabbe's Disease. 1 Vasconcellos E, Smith M. MRI Nerve RootEnhancement in krabbe disease. 11 Wenger, DA, Coppola, S. krabbe disease. http://pbl.cc.gatech.edu/mindy/1295

References for Krabbe's Disease [1] Vasconcellos E, Smith M. MRI Nerve Root Enhancement in Krabbe Disease. Pediatric Neurology 1998;19:151-152. [2] Stewart WA, Gordon KE, Camfield PR, Wood EP, Dooley JM. Irritability in Krabbe's disease: Dramatic response to low-dose morphine. Pediatric Neurology 2001;25:344-345. [3] Furuya H, Kukita Y, Nagano S, Sakai Y, Yamashita Y, Fukuyama H, Inatomi Y, Saito Y, Koike R, Tsuji S, Fukumaki Y, Hayashi K, Kobayashi T. Adult onset of globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Human Genetics 1997;100:450-456. [4] Itoh M, Hayashi M, Fujioka Y, Nagashima K, Morimatsu Y, Matsuyama H. Immunohistological study of globoid cell leukodystrophy. Brain and Development 2002;24:284-290. [5] Zafeiriou D, Anastasiou AL, Michelakaki EM, Augoustidou-Savvopoulou PA, Katzos GS, Kontopoulos EE. Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. Brain and Development 1997;19:488-491. [6] Kaye EM. Update on Genetic Disorders Affecting White Matter. Pediatric Neurology 2001;24:11-24.

47. Central Nervous System Diseases About Metachromatic Leukodystrophy Univ. of Pittsburgh (US). Leukodystrophy, GloboidCell krabbe disease (Globoid Cell Leukodystrophy) mini factsheets - NINDS; http://www.mic.ki.se/Diseases/c10.228.html

search help staff Central Nervous System Diseases 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. 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 CENTRAL NERVOUS SYSTEM INFECTIONS Infectious Diseases of the Central Nervous System - The Virtual Hospital, Iowa (US) Arachnoiditis Arachnoiditis mini fact sheet - NINDS (US) Arachnoiditis.net Arachnoiditis Sufferers Action and Monitoring Society New Zealand, Inc. Arachnoiditis Discussions - NeuroWebForum, MGH (US) The UK Arachnoiditis Trust About Adhesive Arachnoiditis , and Classification of Arachnoiditis - The Burton Report Poliomyelitis The Polio Connection of America Poliomyelitis , and the Global Polio Eradication Initiative - WHO (CH) About Polio Vaccines - Sabin Vaccine Institute About the Polio Vaccine and Simian Virus 40 TJ Moriarty ] - Chronic Illnet Postpoliomyelitis Syndrome Post Polio Home Page About the Post-polio Syndrome Lincolnshire Post-Polio Network , and its Library Catalogue T Dempsey ] - (UK) K-H Jeschke ; in German] The Polio Experience Network Post Polio Syndrome Central - S:t Johns Tips about recently published Medical Articles on Post-Polio Syndrome [citations retrieved from Medline]

48. Krabbe Disease Resources On The Internet krabbe disease. Hunter's Hope Was formed in September 1997, after their infantson, Hunter, was diagnosed with krabbe disease (Globoid-Cell Leukodystrophy). http://www.healthcyclopedia.com/krabbe_disease.html

Home Health Conditions by Category ... Contact Us Krabbe Disease Health News Search millions of published articles for news on Krabbe Disease The eLibrary newspaper and magazine archive contains articles from current and back issues of hundreds of publications, including: Modern Medicine Aging The Ardell Wellness Report HealthFacts The Journal of Environmental Health Medical Post Medical Update Men's Health and the National Women's Health Report Note: To access the full text of articles, sign up for a seven-day no-risk free trial subscription to eLibrary. Web Directory Web Links: 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-Disease.com - A site that shares information about Globoid Cell Leukodystrophy or Krabbe Disease. Information was obtained from several sources - parents of children with Krabbe, physicians, researchers, medical texts and medical websites. 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.

49. Partners Leukodystrophy Service At MGH Globoid cell leukodystrophy (krabbe disease). Introduction. Globoid cell leukodystrophy al.1983), mimics the krabbe disease phenotype. These mice http://fisher.mgh.harvard.edu/leuko/globoid.html

Home Staff Services Leukodystrophy categories Contact us Links X-linked Adrenoleukodystrophy Metachromatic leukodystrophy Globoid cell leukodystrophy Pelizaeus-Merzbacher disease CACH Globoid cell leukodystrophy (Krabbe disease) Introduction Globoid cell leukodystrophy (Krabbe disease) is a rare, inherited, lysosomal disease associated with progressive degeneration of the central and peripheral nervous systems. It is transmitted by autosomal recessive inheritance and results in almost complete absence of activity of the lysosomal enzyme galactosylceramide b-galactosidase activity. Various galactolipids, particularly, galactosylceramide and psychosine accumulate. Macrophages containing these galactolipids develop the globoid cell morphology. There is significant clustering of the disease among the Druze community in Israel. The disease has a radiologically characteristic pattern: CT scan: MRI scan: MLD 90% of patients present, before 6 months of age, with central and peripheral nervous system disease. These infants develop fevers, myoclonic seizures, blindness, spasticity and paralysis and usually die before their second birthday. The remaining 10% can develop disease at any age, with adults sometimes presenting with a painful peripheral neuropathy. The diagnosis is made by assaying the activity of galctosylcerebrosidase.

50. Health Library Find Information On Krabbe Disease At MerckSource Find information on krabbe disease at MerckSource. Learn more about Krabbedisease krabbe disease. Definition krabbe disease is an inherited http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

51. Krabbe Disease krabbe disease PubMed Medline search on krabbe disease krabbe diseasefactsheet National Institute for Neurological Disorders and Stroke. http://www.ion.ucl.ac.uk/library/patient/krabbe.htm

Krabbe Disease PubMed Medline search on Krabbe Disease Krabbe Disease factsheet: National Institute for Neurological Disorders and Stroke see also leukodystrophy page Support Groups Climb The Quadrangle, Crewe Hall, Weston Road, Crewe, Cheshire CW1 6UR Tel: 01270 250221 (information, advice and support to parents and professionals involved with metabolic diseases). The office is open 9.00am - 5.00pm Mondays to Fridays. Fax: 01270 250244 A national umbrella organisation working on behalf of children, young people and families affected by metabolic disease. Offers a telephone helpline for information, counselling and support; written information by post (detailed information only available following confirmed diagnosis, appropriate professional counselling and telephone contact); details of other agencies and sources of help; information about the latest research and whom to contact for specialist advice etc.

52. KRABBE DISEASE (Search FastHealth.com) KRABBE DISEASE He described Krabbe's disease in articles in 1913 and 1916. Publishedunder license with MerriamWebster, Incorporated. © 1997-2000. http://www.fasthealth.com/dictionary/k/Krabbe_disease.php

Dictionary FastHealth Email This! n Krabbe, Knud H. (1885-1961), Danish neurologist. Krabbe wrote many studies on the morphogenesis of the brain in various classes of animals. He also demonstrated that cerebral vascular malformation is the cause of many meningeal hemorrhages. He described Krabbe's disease in articles in 1913 and 1916. FastNurse Drug Search Hospital Search Find a Physician ... Dead Links

53. Multi-joint Reaching Movements And Eye-h... Titre/Title, Developmental Medicine Child Neurology. Article, krabbe diseasein monozygotic triplets . Identification, Dec., no.12 33 1991 Pages 110103. http://www.cidg.com/~marienf/k/i/n/m005494.htm

# Article : A0001235 Cote/Call Number Auteur/Author Becker, W.J., and others Titre/Title Canadian Journal of Neurological Sciences/ Le Journal canadien des sciences neurologiques Article Multi-joint reaching movements and eye-hand tracking in cerebellar incoordination: investigation of a patient with complete loss of Purkinje cells. Identification Nov., no.4 18 1991 Pages: 476-87 Descripteurs/Descriptors Coordination oeil-main Demande par courrier Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

54. Page Not Found krabbe disease. Syndrome, krabbe disease. Gene Name, Galactosylceraminidase.Gene Symbol, GALC. OMIM Number of the Gene, 245200. OMIM Number for Syndrome,245200. http://www.nidr.nih.gov/cranio/detail/245200.htm

Please check to see if you entered the correct URL. If you did, it might be that the link no longer exists. As an option, you may do a search of our site. If all else fails, please fill in the form below and send it to the webmaster to report the broken link. Your Name: Email Address: Please indicate the broken URL here: Your browser doesn't support JavaScript. It will, however, affect only two minor things: it will distort the page appearance and will disable the "printer-friendly version" link. NIDCR Home Page Contact us Accessibility Privacy statement ... Search Image in banner: magnified fluoride crystal National Institute of Dental and Craniofacial Research National Institutes of Health Bethesda, MD 20892-2190 e-mail: nidcrinfo@mail.nih.gov phone: 301/496-4261 National Institutes of Health Department of Health and Human Services

55. ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Krabbe Disease krabbe disease. Causes and Risks krabbe disease is inherited as an autosomal recessivetrait. Treatment There is no specific treatment for krabbe disease. http://www.enlmedical.com/article/001198.htm

Medical Dictionary Naturapathic Glossary Aphrodisiacs Immune System ... Table of content Krabbe disease Causes and Risks: Krabbe disease is inherited as an autosomal recessive trait. It has a higher incidence among people of Scandinavian descent. Absence of the enzyme galactocerebroside beta-galactosidase causes the accumulation of galactocerebroside in the nervous tissue. Accumulating galactocerebroside results in 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 seizures may begin very early and are severe. Visual and hearing losses are progressive. Affected children eventually assume a rigid unusual body position called decerebrate posturing. Death follows shortly thereafter, usually before the second year of life. The late onset form of the disease begins in late childhood or early adolescence Visual problems progressing to blindness may be the first symptom. Gait disturbance (

56. THE LIGHTNING HYPERTEXT OF DISEASE. galactosylceramidase Chromosome 14q31 (krabbe disease) GDB Johns Hopkins University, at Internet ftp site ftp.gdb.org /gdb-reports/gene http://www.pathinfo.com/cgi-bin/lh.cgi?tx=krabbe

57. Krabbe Disease Disease krabbe disease. OMIM number 245200. Body System Metabolicdisorder. Type . Inheritance pattern AR. Incidence/prevalence I. http://www.uwcm.ac.uk/uwcm/mg/fidd/pages/1013.html

Disease : Krabbe disease OMIM number : Body System : Metabolic disorder Type : Inheritance pattern : AR Incidence/prevalence : I Population surveyed : Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : Frequency figure for females : Method (direct/indirect) : Reference : Wenger DA, Rafi MA, Luzi P. Molecular genetics of Krabbe disease: globoid cell leukodystrophy: diagnostic and clinical implications. Hum Mutat 1997;10:268-279. Comments : Higher frequency in Druze and Moslem Arab villages in Israel.

58. GALC CM960675, 7, TCGTAG, Ser-Term, krabbe disease, 1. CM990615, 43, cGGC-CGC,Gly-Arg, krabbe disease, 2. CM990616, 52, TCC-TTC, Ser-Phe, krabbe disease,2. http://www.uwcm.ac.uk/uwcm/mg/ns/1/119970.html

GALC Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference TCG-TAG Ser-Term Krabbe disease cGGC-CGC Gly-Arg Krabbe disease TCC-TTC Ser-Phe Krabbe disease CGT-CAT Arg-His Krabbe disease ATAt-ATG Ile-Met Krabbe disease GGC-GAC Gly-Asp Krabbe disease cGGC-AGC Gly-Ser Krabbe disease cACT-GCT Thr-Ala Krabbe disease cATG-TTG Met-Leu Krabbe disease gCGT-TGT Arg-Cys Krabbe disease GAT-GTT Asp-Val Krabbe disease GGA-GCA Gly-Ala Krabbe disease gGAG-AAG Glu-Lys Krabbe disease ATA-ACA Ile-Thr Krabbe disease tGCA-ACA Ala-Thr Krabbe disease ACT-ATT Thr-Ile Krabbe disease gGGT-AGT Gly-Ser Krabbe disease GGC-GAC Gly-Asp Krabbe disease AAT-ACT Asn-Thr Krabbe disease TCC-TTC Ser-Phe Krabbe disease TAT-TGT Tyr-Cys Krabbe disease gCCT-GCT Pro-Ala Krabbe disease TAC-TGC Tyr-Cys Krabbe disease tGAA-TAA Glu-Term Krabbe disease aCGG-TGG Arg-Trp Krabbe disease CCT-CTT Pro-Leu Krabbe disease aTGG-GGG Trp-Gly Krabbe disease ACT-AGT Thr-Ser Krabbe disease TTT-TCT Phe-Ser Krabbe disease ACG-ATG Thr-Met Krabbe disease aCGC-TGC Arg-Cys Krabbe disease CGC-CAC Arg-His Krabbe disease cGAT-AAT Asp-Asn Krabbe disease aGGA-AGA Gly-Arg Krabbe disease GTT-GGT Val-Gly Krabbe disease TAC-TCC Tyr-Ser Krabbe disease tGCC-TCC Ala-Ser Krabbe disease ATT-AGT Ile-Ser Krabbe disease TTA-TCA Leu-Ser Krabbe disease cGCC-ACC Ala-Thr Krabbe disease CTG-CGG Leu-Arg Krabbe disease TGG-TGA Trp-Term Krabbe disease aACT-CCT Thr-Pro Krabbe disease References 1 - De Gasperi (1996) Am J Hum Genet 2 - Inui (1999) J Inherit Metab Dis ... J Inherit Metab Dis HGMD

59. We Will Never Forget You. Your Spirit Will Live On In Us Forever krabbe disease (Globoid Cell Leukodystrophy) krabbe disease is a lethal, demyelinatingcondition caused by a deficiency of galactosylceramidase (GALC) enzyme http://www.angelfire.com/la2/Love1/KellyBlades.html

"We will never forget you. Your spirit will live on in us forever"... Kelly Swain Blades Came to Earth~February 18, 1992 Returned to Heaven~October 1, 1993 Son of: Kelly O. Blades~Michelle Stafford Blades Grandson of: Luther Eligh Blades~Lorraine Bridges Blades Donagriche Arthur O. Stafford~Delores Swain Stafford Brother of: Tyler, Trace, and Scarlett The Tiny Rosebud The Master Gardener from heaven above Planted a seed in the garden of love, And from it there grew a rosebud small That never had time to open at all. For God in His perfect and all-wise way Chose this rose for His heavenly bouquet, And great was the joy of this tiny rose To be the one our Father chose to leave earths garden For one on high where roses bloom always and never die. So while you can't see your precious rose bloom, You know the great Gardener from the upper room Is watching and tending this wee rose with care, Tenderly touching each petal so fair. So think of your darling with the angels above, Secure and contented and surrounded by love, And remember God blessed and enriched your lives, too

60. Mioti: Medical Condition not available. MEDLINEplus krabbe disease. MEDLINEplus...... Mioti. Condition krabbe disease. Krabbes Disease Homepage. http://www.mioti.com/cat/condition/condition.asp?Cat=KrabbeDisease

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