1. NINDS Krabbe Disease Information Page A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.Category Health Conditions and Diseases krabbe disease...... More about krabbe disease, Studies with patients, NINDS krabbe disease InformationPage Synonym(s) Globoid Cell Leukodystrophy Reviewed 1101-2001 http://www.ninds.nih.gov/health_and_medical/disorders/krabbe_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 Krabbe 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 Krabbe Disease Information Page Synonym(s): Globoid Cell Leukodystrophy Reviewed 11-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Krabbé Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Krabbé Disease? Krabbé 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, but juvenile and even adult-onset patients are known. Is there any treatment?

2. GeneReviews: Krabbe Disease Your browser does not support HTML frames so you must view krabbe diseasein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/krabbe/

Your browser does not support HTML frames so you must view Krabbe Disease in a slightly less readable form. Please follow this link to do so.

3. Krabbe-Disease to share information about Globoid Cell Leukodystrophy or krabbe disease. Information was obtained from several sources http://www.krabbe-disease.com/

4. EMedicine - Krabbe Disease : Article By David Tegay, DO krabbe disease krabbe disease is an autosomal recessive sphingolipidosis causedby deficient activity of the lysosomal hydrolase galactosylceramide beta http://www.emedicine.com/ped/topic2892.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Krabbe Disease Last Updated: May 24, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: galactocerebrosidase deficiency, galactosylceramide beta-galactosidase deficiency, GALC deficiency, globoid cell leukodystrophy, Krabbe's disease, infantile irritability, hypertonia, hyperesthesia, psychomotor arrest, galactosylceramide lipidosis, diffuse infantile familial sclerosis, myelin sheath disorders, sphingolipidosis AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: David Tegay, DO , Fellow, Department of Human Genetics, Mount Sinai School of Medicine Coauthor(s): Shari Fallet, DO , Chief, Division of Genetics, Assistant Clinical Professor of Human Genetics and Pediatrics, Pediatrics, Children's Hospital of New Jersey at Newark Beth Israel Medical Center David Tegay, DO, is a member of the following medical societies: American Medical Association American Osteopathic Association , and American Society of Human Genetics Editor(s): Erawati Bawle, MD, FAAP, FACMG

5. ƒtƒŒ[ƒ€ƒy[ƒW ã‚¯ãƒ©ãƒƒãƒ™ç— (krabbe disease)の息子の様子と日〠の思いを日記に綴っている。 http://www.geocities.co.jp/SweetHome-Skyblue/5941/

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6. Krabbes Family Network Welcomes You! Hunter's Hope Was formed in September 1997, after their infant son, Hunter, was diagnosed with krabbe disease (Globoid-Cell Leukodystrophy). http://www.krabbes.net/

Welcome! Hello, welcome to the Krabbe's Family Network! We have constructed this site to assist families with children having Krabbe Leukodystrophy. The information within this site is a joint-effort among many different families with affected Children. We have many resources already in place and are adding to them on a regular basis. Please check back often. All of the Krabbe families feel that the largest part of helping a Krabbe child is knowing how to provide for their special needs. We have all experienced many road-blocks in trying to obtain what we feel is proper care for our children; whether it's obtaining special equipment, or dealing with insurance companies to get special services, you may find the pages here helpful. We have provided web links and phone numbers to special resources wherever possible. We would be happy to provide you a place for your child's web site, free of charge. Web hosting may be obtained on other Krabbe sites also. Please contact us for details. webmaster@krabbes.net . Printing of pages for personal use is acceptable and expected.

7. Hunter's Hope Was formed in September 1997, after their infant son, Hunter, was diagnosed with krabbe disease (GloboidCell Leukodystrophy). To date they have raised over two million dollars to further research on Krabbes and other Leukodystrophies. http://members.aol.com/hunterhope/

8. Krabbe Disease-Dalton And Anthony's Home Page krabbe disease You see, both of my boys were diagnosed with Krabbedisease, which is a rare genetics disorder that is proven fatal. http://members.aol.com/tomdia22/

Thomas "Anthony" Shell and Dalton Glenn Shell Krabbe Disease... Anthony and Dalton's Home Page " The Miracle Of Lif e" This page is dedicated to the memory of our son, Anthony, and in honor of our son, Dalton. Our little boys have opened our eyes to a new way to live our lives...Cherish every day with your precious little ones, for who knows what tomorrow brings! My name is Dianna Greene. I want to tell you about my boys, Anthony and Dalton They are the reason for my web page. You see, both of my boys were diagnosed with Krabbe disease, which is a rare genetics disorder that is proven fatal. This we know because we lost Anthony to it. As for Dalton, he is living with Krabbe. Unlike most children with infantile Krabbe, Dalton has had a second chance at life. He received a bone marrow transplant at 2 month old from his twin sister, Dakota, in order to try to replace an enzyme his brain wasn't able to make. Dalton is now 6 years old and as to date, his transplant has been a success. He has a normal enzyme level and continues to show improvement. Dalton has been followed for a case study by Dr. William Krivit at the University of Minnesota Hospital. Dr. Krivit published his study in

9. GeneDis Globoid Cell Leukodystrophy (Krabbe) Mutations GeneDis Website for krabbe disease. krabbe disease is an autosomal recessive neurodegenerative disorder that affects http://aten.tau.ac.il/GeneDis/Tables/Krabbe/krabbe.html

GeneDis Human Gene tic Dis ease Database Krabbe Disease Scientific editor: Prof. Gideon Bach Head of Department of Human Genetics,Hadassah University Hospital, Jerusalem, Israel. Database coordinator: Dr. Rachel Kreisberg-Zakarin Bioinformatics Unit , G.S. Wise Faculty of Life Sciences, Tel-Aviv University, Israel. GeneDis Website for Krabbe Disease Krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and the peripheral nervous systems due to mutations in the GALC gene. T he GeneDis web site for Krabbe disease includes the wild type primary sequences of the GALC gene and protein. Known mutations are incorporated in the gene and in the protein sequences using hyperlinks. Users can compare GALC DNA or protein sequences to the wild type hyperlinked sequences present in GeneDis. The pairwise alignment output retains the hyperlinks, which enable the user to browse through the Krabbe mutation table. The mutation table shows the location of the mutation on the cDNA, genomic DNA and protein sequences, the number of exon or intron, the severity of the disease associated with the mutation and a reference in which the mutation was first described. Go to "Search the Krabbe Disease Database with your primary DNA or protein sequence" Go to "GeneDis Homepage" Visit the Krabbe Disease database at " Locus Specific Mutation Databases Disease Description Krabbe disease (Globoid Cell Leukodystrophy, GLD) is an autosomal recessive neurodegenerative disorder (

10. MEDLINEplus Medical Encyclopedia: Krabbe Disease krabbe disease. Causes, incidence, and risk factors Return to top.krabbe disease is inherited as an autosomal recessive trait. It http://www.nlm.nih.gov/medlineplus/ency/article/001198.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Krabbe disease Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency Definition Return to top 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 Return to top 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

11. Krabbe Disease (KD) 1 Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. View theFull Record Syndrome, krabbe disease (KD) 1. Synonyms, Krabbe leukodystrophy. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome389.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Krabbe disease (KD) 1 Synonyms Krabbe leukodystrophy diffuse globoid body sclerosis diffuse globoid cell cerebral sclerosis galactocerebrosidase (GALC) deficiency galactosylceramide beta-galactosidase deficiency galactosylceramide deficiency galactosylsphingosine lipidosis globoid cell cerebral sclerosis globoid cell leukodystrophy (GCL, GLD) globoid cell sclerosis psychosine lipidosis Summary A degenerative disease of the central and peripheral nervous system caused by abnormal breakdown and turnover of myelin and marked by reduced galacosylceramide beta-galactosidase activity (EC 3.2.1.46). Two types based on the age of onset are recognized: Infantile-onset Krabbe disease is marked by the appearance of symptoms at ages 3-6 months, which include irritability, frequent crying, and increase of muscle tonus. They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity. Most infants die during the second year of life. Late-onset Krabbe disease (LOKD) has first symptoms at ages 5 to 10 years, consisting of focal neurological signs, hemiparesis, cerebellar ataxia, cortical blindness, and spastic paraplegia, followed by mental and physical deterioration. Some patients survive into adulthood. Major Features Head and neck: Macrocephaly Eyes: Cherry red spots or the retina, optic atrophy, and sluggish pupillary reflexes.

12. Krabbe Disease krabbe disease is a rare, degenerative disorder of the central and peripheral nervoussystems. Receive HealthLink via email! Subscribe now . krabbe disease. http://healthlink.mcw.edu/article/921771775.html

Search Articles: search tips Please Take the HealthLink Survey 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.

13. Short Description Of Cell Lines. Pathology Krabbe Disease * Version 4.200205, Short description of cell lines. Pathology Krabbedisease *245200 OMIM record. By selecting the cell line name http://www.biotech.ist.unige.it/cldb/pat105.html

14. Indian Pediatrics - Editorial krabbe disease Clinical Profile. Objective To study clinical features and investigationsof children with krabbe disease (KD). Design Retrospective. http://www.indianpediatrics.net/sept2000/sept-939-946.htm

Home Past Issue About IP About IAP ... Subscription Original Articles Indian Pediatrics 2000;37: 939-946 Krabbe Disease - Clinical Profile Milind S. Tullu, Mamta N. Muranjan, Pratima P. Kondurkar and Burjor A. Bharucha* From the Genetics Division, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai 400 012, Maharashtra, India. * Deceased Reprint requests: Dr. Mamta N. Muranjan, 3rd Floor, 16-B, Naushir Bharucha Marg, Tardeo, Mumbai 400 007, India. E-mail: drsuji@vsnl.com Manuscript received: December 28, 1999; Initial review completed: February 8, 2000; Revision accepted: April 13, 2000. Objective: To study clinical features and investigations of children with Krabbe Disease (KD). Design: Retrospective. Setting: Genetic Clinic of a tertiary care teaching hospital. Methods: Hospital records of patients with enzymatically confirmed KD were analyzed with respect to their clinical features and investigations including neuroimaging (CT-scan and/or MRI). Galactocerebrosidase (GALC) activity was estimated photometrically in the peripheral blood leukocytes. Results: Nine children (age ranging from 2½ months to 8 years) were studied, of which 5 had the classical infantile disease, 3 had late infantile form and one was diagnosed as juvenile KD. GALC levels in peripheral blood leukocytes were low or absent in all. Most of the children with infantile disease presented with neurodegeneration, seizures or fever. Optic atrophy was uncommon in our series (present only in a single case). Majority of the cases had elevated cerebrospinal fluid (CSF) protein levels and peripheral neuropathy on nerve conduction (NC) studies. Findings typical of KD were noted in 7 patients who underwent magnetic resonance imaging (MRI). The sole patient with juvenile disease presented with developmental delay and progressive spastic quadriparesis.

15. Krabbe Disease krabbe disease (also called Globoid Cell Leukodystrophy). What is KrabbeDisease? The prognosis for individuals with krabbe disease is poor. http://www.clevelandclinic.org/health/health-info/docs/1200/1293.asp?index=6039

16. Show-documents.asp The Cleveland Clinic, krabbe disease (Globoid Cell Leukodystrophy) WrittenInformation. Care Treatment. krabbe disease. New Search1. http://www.clevelandclinic.org/health/search/do-query.asp?TopicId=1315

17. ORPHANET® : Krabbe Disease ORPHANET. ORPHANET database access. krabbe disease. Direct accessto details Alias Galactocerebrosidase deficiency. Home Page. http://www.orpha.net/static/GB/krabbe.html

ORPHANET database access Krabbe disease Direct access to details Alias : Home Page

18. Service Page - Pathologie Information DISEASE krabbe disease, Synonym(s) Galactocerebrosidase deficiency,CIM E75.2, Krabbe's disease, also called globoid cell leukodystrophy http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=487

19. Florida State University College Of Medicine Digital Library Patient/Family Resources by Topic Metabolic Disorders. krabbe disease Patient/FamilyResources. Miscellaneous. krabbe disease Clinical Resources. http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphi

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.

20. Florida State University College Of Medicine Digital Library krabbe disease Clinical Resources. Miscellaneous krabbe disease Clinical ResourcesHealth Reviews for Primary Care Providers on the Internet Homepage http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingo

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 Medical 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 Medical 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 1st Ed.-1999 (MD Consult):

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