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Krabbe Disease: more detail

Krabbe's Disease: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-10-08

Krabbe disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Amie, MS Stanley, Rosalyn, MD Carson-DeWitt, 2005

Krabbe Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18

Krabbe disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Amie, MS Stanley, 2005

Leukodystrophies: Adrenoleukodystrophy, Canavan Disease, Pelizaeus-Merzbacher Disease, Metachromatic Leukodystrophy, Krabbe Disease

Neurology, lectures for medical students and general practitioners by Knud H Krabbe, 1941

Urolithiasis in dogs and cats by Agnete Krabbe, 1949

lists with details

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

Extractions: Subscribe now >> 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.
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

Extractions: Patient/Family Resources by Topic: Metabolic Disorders Krabbe Disease Patient/Family Resources Spanish Miscellaneous See also: United Leukodystrophy Foundation: Homepage National Organization for Rare Disorders: Homepage MEDLINE plus Medical Encyclopedia: Table of contents Spanish Miscellaneous Krabbe Disease Patient/Family Resources Healthfinder (US DHHS): Homepage National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Metabolic Diseases
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

Extractions: Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference 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). 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'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

Extractions: 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.
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/
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

Extractions: [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.
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

Extractions: Arachnoiditis 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]
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

Extractions: 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 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.
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

Extractions: Home Staff Services Leukodystrophy categories Contact us Links X-linked Adrenoleukodystrophy Metachromatic leukodystrophy Globoid cell leukodystrophy Pelizaeus-Merzbacher disease CACH 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.
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
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

Extractions: 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.
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
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

Extractions: # 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
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
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

Extractions: 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 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
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

Extractions: 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.
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

Extractions: 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
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
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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