1. NINDS Krabbe Disease Information Page More about krabbe disease, Studies with patients, NINDS krabbe disease Information Page Synonym(s) Globoid Cell Leukodystrophy Reviewed 1201-2003 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 12-01-2003 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Krabbe Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Krabbe Disease? Is there any treatment? Although there is no cure for Krabbe disease, bone marrow transplantation has been shown to benefit 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. What is the prognosis?

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

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Krabbe Disease Last Updated: May 26, 2004 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 H Tegay, DO, FACMG , Assistant Professor of Pediatrics and Internal Medicine, Co-Director, Division of Medical Genetics, Stony Brook University Hospital Coauthor(s): Shari Fallet, DO

3. Hunter's Hope Foundation Formed in honor of infant son, Hunter, who was diagnosed with krabbe disease (GloboidCell Leukodystrophy). Supports research on this and other leukodystrophies. Includes disease information, family registry, and other resources. http://www.huntershope.org/

About Us Krabbe Disease Research Families ... Links Established in 1997 by Pro Football Hall of Fame member and former Buffalo Bills Quarterback, Jim Kelly, and his wife, Jill, after their infant son, Hunter, was diagnosed with Krabbe Leukodystrophy, an inherited, fatal, nervous system disease. The Foundation is the Kelly’s life long commitment to increase public awareness of leukodystrophies as well as to increase the likelihood of early detection and treatment. Their ultimate goal is to raise money to fund research efforts to identify new treatments, therapies, and a cure for Krabbe and other leukodystrophies. Next Upcoming Event: Don George's Motorcycle Fun Run info@huntershope.org Site design and implementation by Algonquin Studios

4. GeneReviews: Krabbe Disease 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. 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.

5. Krabbes Family Network Welcomes You! A support site serving families dealing with krabbe disease and other leukodystrophies. Hello, welcome to the Krabbe's Family Network! We have families with children having Krabbe Leukodystrophy. The information within All of the Krabbe families feel that the largest 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.

6. Krabbe Disease-Dalton And Anthony's Home Page krabbe disease You see, both of my boys were diagnosed with krabbe disease, 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

7. Hunter's Hope: Krabbe Disease Hunter’s Hope is our lifelong commitment to increase public awareness of krabbe disease and other leukodystrophies, so that other children may have early http://www.huntershope.org/krabbe/default.asp

About Us Krabbe Disease Research Families ... Newborn Screening Krabbe Disease One in 100,000 live births in the United States are afflicted with Krabbe Disease. Approximately 2 million people (or one out of 125) in the United States are carriers of the genetic deficiency that causes Krabbe Disease. Yet, awareness about this disease is very limited. Until recently the only treatment options were limited to symptom management and palliative care. Now, a new and revolutionary treatment, Cord Blood Transplant , is saving the lives of many sick, young children and babies. This new method of treatment is bringing new hope to those afflicted with a variety of diseases including Krabbe, other Leukodystrophies and Lysosomal Storage Disorders. info@huntershope.org Site design and implementation by Algonquin Studios

8. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?245200

9. Krabbe Disease krabbe disease is a rare, degenerative disorder of the central and peripheral nervous systems. 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.

10. GeneDis Globoid Cell Leukodystrophy (Krabbe) Mutations GeneDis Human Genetic Disease Database. krabbe disease. Scientific editor Prof. Gideon GeneDis Website for krabbe disease. Krabbe http://life2.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 (

11. Krabbe Disease Suggested Reading. Internet links on krabbe disease. krabbe disease. Four subtypes krabbe disease is divided into four subtypes based on when the disease begins http://rarediseases.about.com/cs/krabbedisease/a/020104.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Types of Diseases Brain and Nervous System ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. Suggested Reading Internet links on Krabbe disease Most Popular ALD and Lorenzo's Oil The Elephant Man's Bones Reveal Mystery Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Autoimmune Kidney Disease Tourette Syndrome Christmas Disease Bugs, PANDAS, and Tics ... Dystonia and Botox Injections Krabbe Disease From Mary Kugler Your Guide to Rare / Orphan Diseases Sign up for my Newsletter Toxic build-ups damage nerve cells Four subtypes Symptoms Diagnosis Treatment Several areas of research could help Krabbe disease Information for this article was taken from: RATE THIS ARTICLE Would you recommend this article?

12. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Search results for krabbe disease ALLFIELDS are shown below. Conditions Graft Versus Host Disease; Lysosomal Storage Diseases; Peroxisomal Disorders http://clinicaltrials.gov/search/term=Krabbe Disease

Home Search Browse Resources ... About Search results for Krabbe Disease [ALL-FIELDS] are shown below. Include trials that are no longer recruiting patients. 1 study was found. Recruiting Phase II Study of Allogeneic Bone Marrow or Umbilical Cord Blood Transplantation in Patients With Lysosomal or Peroxisomal Inborn Errors of Metabolism Conditions: Graft Versus Host Disease; Lysosomal Storage Diseases; Peroxisomal Disorders U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Privacy ... Freedom of Information Act

13. Krabbe Disease Search. Rare / Orphan Diseases, krabbe disease Guide picks. krabbe disease Feature article describes krabbe disease, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/cs/krabbedisease/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Krabbe Disease Guide picks An enzyme deficiency in this disorder leads to toxic build-ups of substances in the body. Krabbe Disease Feature article describes Krabbe disease, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. NINDS: Krabbe Disease Information about the disorder and links to resources from the National Institute for Neurological Disorders and Stroke (U.S.). Hunter's Hope: What is Krabbe Disease? The Hunter's Hope Foundation was established in 1997 by Pro Football Hall of Fame member and former Buffalo Bills Quarterback, Jim Kelly and his wife, Jill, after their infant son Hunter, was diagnosed with Krabbe Disease. Site offers information about the disorder, resources, and support. Krabbe's Family Network Site offers information, message board, family stories, resources, child care tips, and news.

14. Krabbe Disease-Dalton And Anthony's Home Page Thomas "Anthony" Shell and Dalton Glenn Shell. krabbe disease Anthony and Dalton's Home Page " The Miracle Of Life" This page is dedicated to the memory of our son, Anthony, and in honor of our son, Dalton. of my boys were diagnosed with krabbe disease, which is a rare genetics disorder 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

15. Krabbe Disease - Information / Diagnosis / Treatment / Prevention home neurological disorders demyelinating diseases leukodystrophy krabbe disease krabbe disease. Information • Diagnosis • Treatment • Prevention. http://www.healthcyclopedia.com/neurological-disorders/demyelinating-diseases/le

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... leukodystrophy > krabbe disease Krabbe Disease Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Medical Definition Health News Web Directory: Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "Krabbe's disease" Health News: Search millions of published articles for news on Krabbe Disease Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Hunter's Hope Foundation Formed in honor of infant son, Hunter, who was diagnosed with Krabbe disease (Globoid-Cell Leukodystrophy). Supports research on this and other leukodystrophies. Includes disease information, family registry, and other resources. Krabbe Disease A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

16. AllRefer Health - Krabbe Disease (Galactosylcereamidase Deficiency, Galactosylce krabbe disease (Galactosylcereamidase Deficiency, Galactosylcerebrosidase Deficiency, Globoid Cell Leukodystrophy) information center covers causes, prevention http://health.allrefer.com/health/krabbe-disease-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Krabbe Disease Krabbe Disease Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Galactosylcereamidase Deficiency, Galactosylcerebrosidase Deficiency, Globoid Cell Leukodystrophy 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. 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.

17. AllRefer Health - Krabbe Disease Prevention (Galactosylcereamidase Deficiency, G krabbe disease (Galactosylcereamidase Deficiency, Galactosylcerebrosidase Deficiency, Globoid Cell Leukodystrophy) information center covers Prevention. http://health.allrefer.com/health/krabbe-disease-prevention.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Krabbe Disease : Prevention of Krabbe Disease Krabbe Disease Definition Prevention Treatment Expectations or Prognosis Complications Support Groups ... Go To Main Page Alternate Names : Galactosylcereamidase Deficiency, Galactosylcerebrosidase Deficiency, Globoid Cell Leukodystrophy Krabbe Disease Prevention Genetic counseling is recommended for prospective parents with a family history of Krabbe disease. Whether you are a carrier for the disease can be determined by testing your white blood cells or skin cells for decreased galactocerebroside beta-galactosidase levels. Prenatal diagnosis is possible by measuring galactocerebroside beta-galactosidase levels in cultured amniotic fluid cells or from cultured chorionic villi cells.

18. 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

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); 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 (galactosylcereamidase). It results 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 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

19. Medical Encyclopedia: Krabbe Disease (Print Version) Medical Encyclopedia krabbe disease. Causes, incidence, and risk factors. krabbe disease is inherited as an autosomal recessive trait. http://www.nlm.nih.gov/medlineplus/print/ency/article/001198.htm

To print this page, use the print option from your browser. To close this window, click on the "x" in the upper right hand corner of the window. Medical Encyclopedia: Krabbe disease URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001198.htm Alternative names Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency 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. Causes, incidence, and risk factors 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. Seizures may begin very early and are severe. Visual and hearing losses are progressive. Affected children eventually assume an unusual, rigid body position called decerebrate posturing. Death follows shortly thereafter, usually before the second year of life.

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

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