61. Slider Index: Krabbe Disease - Krzyzewski, Mike kw kx ky kz. krabbe disease Kraftwerk Krajicek, Richard Krakowski,Jane Krall, Diana Kramer Kramer vs. Kramer Hoffman,_Dustin Streep http://www.slider.com/index/indexkr.htm

Arts Business Computers Health ... Sports Slider Search: The Web Encyclopaedia Shopping Index Help Encyclopaedia Index A B C D ... Krzyzewski, Mike Slider in: Espa±ol Deutsch Dansk Nederlands ... About Us

62. University Of Pittsburgh Scientists To Discuss Genetic Research With Buffalo Bil Kelly and his wife, Jill, promote research on krabbe disease througha foundation, Hunter's Hope, dedicated to their 5year-old son http://www.upci.upmc.edu/internet/news/upci_news/2002/031902_genetic_kelly.html

Back to UPCI-Specific News UNIVERSITY OF PITTSBURGH SCIENTISTS TO DISCUSS GENETIC RESEARCH WITH BUFFALO BILLS HALL OF FAME QUARTERBACK JIM KELLY Kelly and his wife, Jill, promote research on Krabbe disease through a foundation, Hunter's Hope, dedicated to their 5-year-old son PITTSBURGH, Mar 19, 2002 The couple will visit University of Pittsburgh Medical Center (UPMC) Wednesday, March 20, to meet with researchers John Barranger, MD, PhD, professor of human genetics and molecular genetics and biochemistry, University of Pittsburgh Graduate School of Public Health and the University of Pittsburgh School of Medicine, and Andrew Yeager, MD, professor of medicine and pediatrics at Pitt and director of stem cell transplantation at the University of Pittsburgh Cancer Institute. "Jill and I are glad to be able to visit Pittsburgh to call attention to this devastating condition," said Kelly, a native of East Brady, PA., who played with the Buffalo Bills from 1986 to 1996, leading the team to four consecutive Super Bowl games. "We hope that the people we meet here will learn something from us that could lead to new research initiatives." Dr. Barranger and his colleagues have been studying lysosomal storage disorders for nearly 30 years. His research focuses on developing diagnostic tools and treatments, as well as finding appropriate gene transfer therapy associated with enzyme replacement.

63. Krabbes Disease Back Home Next. Krabbes Disease Krabbes Disease. krabbedisease.com- contains medical and research information on krabbe disease. http://www.ability.org.uk/Krabbes_Disease.html

Our Aims Services Stats ... Z Krabbes Disease Krabbes Disease krabbe-disease.com - contains medical and research information on Krabbe disease. Krabbe's Family Network - dedicated to helping families deal with Krabbe Leukodystrophy. Contains resources for parents. Krabbe's Kids - information and links for families. Haleys' Hope - a page to assist others in finding information and helpful hints. Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

64. Searchalot Directory For Krabbe Disease adults. krabbe disease A short information sheet compiled by NINDS,the National Institute of Neurological Disorders and Stroke. http://www.searchalot.com/Top/Health/ConditionsandDiseases/NeurologicalDisorders

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Neurological Disorders ... Leukodystrophy : Krabbe Disease Related Web Sites 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 Disease - A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. 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.

65. 2718 Mutation Analysis Of Krabbe Disease And Metachromatic Program Nr 2718 Mutation analysis of krabbe disease and Metachromatic Leukodystrophyin Portugal. AML Marcao, OMO Amaral, EM Pinto, MC Sa Miranda. http://www.faseb.org/genetics/ashg99/f2718.htm

66. Krabbe_references 1. Molecular defects in krabbe disease. 2. krabbe disease isolation and characterizationof a fulllength cDNA for human galactocerebrosidase. http://www.tau.ac.il/~racheli/genedis/krabbe/krabbe_references.html

GeneDis References for Krabbe 1. Molecular defects in Krabbe disease. Tatsumi N, Inui K, Sakai N, Fukushima H, Nishimoto J, Yanagihara I, Nishigaki T, Tsukamoto H, Fu L, Taniike M, et al, Hum Mol Genet 1995, 4(10):1865-8. ( PubMed 2. Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Sakai N, Inui K, Fujii N, Fukushima H, Nishimoto J, Yanagihara I, Isegawa Y, Iwamatsu A, Okada S, Biochem Biophys Res Commun 1994, 198(2):485-91. ( PubMed 3. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Wenger DA, Rafi MA, Luzi P, Hum Mutat 1997;10(4):268-79. ( PubMed) 4. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Rafi MA, Luzi P, Zlotogora J, Wenger DA, Hum Genet 1996, 97(3):304-8. ( PubMed) 5. Molecular basis of late-life globoid cell leukodystrophy. De Gasperi R, Gama Sosa MA, Sartorato E, Battistini S, Raghavan S, Kolodny EH, Hum Mutat 1999, 14(3):256-62. ( PubMed 6. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. De Gasperi R, Gama Sosa MA, Sartorato EL, Battistini S, MacFarlane H, Gusella JF, Krivit W, Kolodny EH, Am J Hum Genet 1996, 59(6):1233-42. (

67. Demyelinating Diseases - Internet Handbook Of Neurology krabbe disease krabbe disease Clinical Profile - Indian Pediatrics2000;37 939-946; krabbe disease - GeneClinics, University of http://www.neuropat.dote.hu/myelin.htm

Internet Handbook of Neurology Compiled by K atalin H Department of Neurology University of Debrecen, Hungary Demyelinating Diseases Chapters: A Collection of High Quality Online Resources for Health Professionals Pathology see Pathology of Infectious Diseases and Disease of Myelin Overview - Washington University Demyelinating Diseases of the Brain - University of California, San Diego Demyelinating Disease - Finch University Chemokine Regulation of Immune-mediated Demyelinating Disease - ILAR Journal, Vol 40(4) 1999 Pathology of Inflammatory Demyelinating Diseases - Mayo Clinic Viral Induced Demyelination - Brain Pathology, January 2001 (PDF) Is There a Role for Human Herpesvirus-6 in the Course of Multiple Sclerosis? - International Journal of MS Care, March Current Immunotherapy for Demyelinating Diseases - Archives of Neurology, May Multiple Sclerosis Overview Multiple Sclerosis - Neurology Associates of Arlington Multiple Sclerosis - Praxis MD Multiple Sclerosis: Current Status and Strategies for the Future - National Academy Press, Multiple Sclerosis: Lectures - University of Utah, Houston (

68. Horizon Molecular Medicine muscular dystrophy, Fragile X syndrome, Gaucher syndrome, Glutaric acidemia typeI, Glutaric acidemia type II, Homocystinuria, krabbe disease, Maple syrup http://www.horizonmedicine.com/symptomguide.asp

Monday, March 31, 2003 Conditions Ordering Tests Key Players Factors Influencing Test Results ... Website Links Approach to common genetic/metabolic problems select from list Approach to Cardiomyopathy *Approach to Hypoglycemia *Approach to Hyperammonemia *Approach to Metabolic Acidosis (PDF) *Developed by Mark Korson, M.D. Tufts-New England Medical Center Boston, MA Symptom Guide Anemia/thrombocytopenia Gaucher disease Homocystinuria Isovaleric acidemia Methylmalonic acidemia ... Propionic acidemia Arthritis/joint abnormalities Hemochromatosis Mucopolysaccharidoses Wilson disease Ataxia/unsteady gait Angelman syndrome Argininosuccinic acid lyase deficiency Argininosuccinic acid synthetase deficiency Biotinidase deficiency ... Tyrosinemia type III Cardiomyopathy/Cardiac problems Carnitine palmitoyltransferase II deficiency Fabry disease Glycogen storage disease Hemochromatosis ... Wilson disease Developmental delay/mental retardation X-linked adrenoleukodystrophy Angelman syndrome Arginase deficiency Argininosuccinic acid lyase deficiency ... Niemann-Pick disease types A, B, and C

69. Laboratory Of Neurodegenerative Disease Therapeutics potential lead therapeutics. Current work in the group is focused onAlzheimer's disease and on krabbe disease. Alzheimer's disease (AD http://www.mayo.edu/res-jax/EckmanResearch/EckmanResearch.html

Laboratory of Neurodegenerative Disease Therapeutics Synopsis Work in our laboratory is focused on using modern molecular and biochemical methods to elucidate those pathways involved in neurodegenerative disease that are most amenable to therapeutic intervention. Using both small molecule libraries and molecular approaches we then seek to identify and develop potential lead therapeutics. Current work in the group is focused on Alzheimer's disease and on Krabbe disease. Alzheimer's disease Krabbe disease is a degenerative neurological disorder primarily affecting infants and young children, although rare cases of adult onset have been described. Affected individuals typically present with symptoms in the first few months of life. Disease progression is generally rapid, leading to death within 1-2 years. Pathologically, the brains of affected individuals are characterized by a severe loss of oligodendrocytes and myelin and the appearance of mono and multinucleated macrophages with a classical globoid appearance. The disease is inherited as an autosomal recessive trait caused by mutations in the galactocerebrosidase (GALC) gene that significantly reduce the activity of the enzyme. An obvious therapeutic approach for the treatment of Krabbe disease is to restore GALC enzymatic activity in the brain. We are currently exploring several methods to accomplish this goal including protein transduction techniques. Current Staff Christopher B. Eckman, Ph.D.

70. Krabbe Disease krabbe disease. Alternate Names Globoid cell leukodystrophy. Causes and Riskskrabbe disease is inherited as an autosomal recessive trait. http://www.rwjuhh.net/Atoz/encyclopedia/article/001198.asp

For a complete list of hospital classes and events, click here to connect to HealthConnection Online Medical Encyclopedia Encyclopedia Disease K -> Krabbe disease Krabbe disease Alternate Names: Globoid cell leukodystrophy 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 (

71. Lysosomal Diseases Australia krabbe disease. Krabbe's Family Network. krabbe disease just the facts. Judson'sHelping Hand Hunter's Hope United Leukodystrophy Foundation. Mannosidosis. http://www.lda.org.au/related.html

Information on Specific Disorders: Batten disease (neuronal ceroid lipofuscinosis) Batten Disease Support and Research Association Cystinosis Cystinosis Foundation Cystinosis Central Fabry disease International Center for Fabry Disease National Institutes of Health - Fabry disease Fabry Support and Information Group Fucosidosis Fucosidosis Gaucher disease National Gaucher Foundation Krabbe Disease Krabbe's Family Network United Leukodystroph Krabbe disease - just the facts Judson's Helping Hand ... United Leukodystrophy Foundation Mannosidosis Mucopolysaccharide and Related Diseases The Canadian MPS Society The National MPS Society (USA) The UK MPS Society Niemann-Pick disease Foundation Ara Parseghian Medical Research (Niemann-Pick C) >Foundation National Niemann-Pick Disease Pompe disease / Glycogen Storage diseases Pompe Disease. A Guide for Families

72. Sphingolipidoses - DrGreene.com - Caring For The Next Generation The sphingolipidoses include six specific diseases NiemannPick disease, Gaucherdisease, krabbe disease (globoid cell leukodystrophy), metachromatic http://www.drgreene.com/21_15.html

QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep DrGreene.com Topic Centers Mission Reviews Awards Readers Comments Press Room Partners and Supporters Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide DrGreene´s Chats FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Children's Health Fertility Sphingolipidoses I know it’s a neurodegenerative disorder , but what, exactly, is sphingolipidoses? The sphingolipidoses include six specific diseases: Niemann-Pick disease, Gaucher disease, Krabbe disease (globoid cell leukodystrophy), metachromatic leukodystrophy (MLD), GM1 gangliosidosis, and GM2 gangliosidosis. What these conditions all have in common is the ability to destruct the storage of fats within nerve cells. My up-to-date pediatric textbook states that each of these diseases is invariably fatal. But the situation is rapidly changing! The April 16, 1998 issue of the

73. Health Content Encyclopedia Article Krabbe Disease krabbe disease is an inherited disorder characterized by a deficiency of the enzymegalactocerebroside betagalactosidase (ie, galactosylcereamidase) and http://www.centralbap.com/adamcontent/ency/article/001198.asp

74. Untitled Document krabbe disease (Globoidcell leukodystrophy). This autosomal recessively-inheriteddisease results from a deficiency of the lysosomal http://www.health.wits.ac.za/gen/genet_disorders_listk-m.htm

Krabbe disease (Globoid-cell leukodystrophy) This autosomal recessively-inherited disease results from a deficiency of the lysosomal enzyme b-galactosylceramidase. This enzyme plays a role in the normal turnover of lipids that form a significant part of myelin, the insulating material around certain neurons. A deficiency of b-galactosylceramidase results in the accumulation of such lipids in macrophages (called globoid cells when they contain this stored material), particularly in the white matter of the brain. Affected individuals show progressive mental and motor (movement) deterioration and usually die within a year or two of birth. A diagnosis of Krabbe disease can be confirmed by measuring the activity of b-galactosylceramidase in leukocytes or cultured fibroblasts. Prenatal diagnosis can also be carried out by measuring b-galactosylceramidase activity in cultured amniocytes. Sample required for post partum diagnosis: Approximately 13ml of whole blood (i.e. 6.5ml drawn into two yellow-capped vacutainer tubes, containing ACD anticoagulant), to reach the laboratory within 24 hours of collection. Time taken for results : Approximately one week Please contact the laboratory in advance if prenatal diagnosis is required.

75. Krabbe Disease Home Medical Reference Encyclopedia (English) Toggle English / Spanish Krabbedisease. krabbe disease is inherited as an autosomal recessive trait. http://www.northarundel.com/ency/article/001198.htm

Disease Nutrition Surgery Symptoms Injury ... Z Related Programs at North Arundel Hospital Orthopaedic Services Home Medical Reference 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

76. Krabbe Disease : Meddie Health Search ITEMS LINKS Hunter's Hope Was formed in September 1997, after their infant son,Hunter, was diagnosed with krabbe disease (GloboidCell Leukodystrophy). http://www.meddie.com/search/Health/Conditions_and_Diseases/Neurological_Disorde

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Leukodystrophy : Krabbe Disease ITEMS: 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. (Rating: 0.00 Votes: 0) Rate It Krabbe Disease A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. (Rating: 0.00 Votes: 0) Rate It 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. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

77. Suzuki, Kinuko Suzuki, K. and Suzuki, Kinuhiko The twitcher mouse A model of human globoid cellleukodystrophy (krabbe disease), In Myelin, edited by RE Martensson, CRC http://www.fpg.unc.edu/~MRRC/publishers/mrrcpubs/suzuki, kinuko.html

Suzuki, Kinuko Suzuki, K. and Suzuki, Kinuhiko: The twitcher mouse: A model of human globoid cell leukodystrophy (Krabbe disease), In: Myelin, edited by RE Martensson, CRC Press, Boca Raton, FL, pp. 745-759, 1992. Suzuki, K. and Suzuki, Kunihiko: Genetic animal models of Krabbe disease, In Genetically-Defined Animal Models of Neurobehavioral Dysfunction, edited by P. Driscoll, Birkhauser, Boston, MA., (A review), pp24-38,1992 Suzuki, K. and Martin, P. M. Neurotoxicants and developing brain, In: Developmental Neurotoxicology, edited by J. G. Harry, CRC Press, Boca Raton, FL, pp 9-32, 1994. Suzuki, K., Suzuki, Y. and Suzuki, K. Galactosylceramide lipidosis: Globoid Cell leukodystrophy (Krabbe disease), In: The Metabolic and Molecular Basis of Inherited Disease, Seventh edition, edited by Scriver, C. R., Beaudet, A. L., Sly, N. S. and Valle, D., McGraw-Hill Book Co. pp2671-2692, 1995. Pentchev, P. G., Vanier, M. T., Suzuki, K. and Patterson, M. C., Niemann-Pick Disease type C: A Cellular Cholesterol Lipidosis, In: The Metabolic and Molecular Basis of Inherited Disease, Seventh edition, edited by Scriber, C. R., Beauudet, A. C., Sly, N. S. and Valle, D., McGraw-Hill Book Co. pp2625-2639, 1995. Gravel, R. A., Clarke, J.T. R., Kaback, M. M., Mahuran, D., Sandhoff, K., and Suzuki, K.: The GM2 Gangliosidoses, In: The Metabolic and Molecular Basis of Inherited Disease, Seventh edition, edited by Scriber, C. R., Beaudet, A. L., Sly, N. E. and Valle, D., McGraw-Hill Book Co. pp2839-2879, 1995.

78. NORD - National Organization For Rare Disorders, Inc. Dr. Junko Matsuda of the University of Tokushima (Japan) will study geneticallyaltered mice that carry the genes for krabbe disease as well as pregnant mice http://www.rarediseases.org/nord/research/awardwinners

Search NORD's Databases NORD maintains three searchable databases and an alphabetical index of disease names. Index of Rare Diseases The A-to-Z of Rare Diseases Rare Disease Database Read about more than 1,100 rare diseases. View sample report Organizational Database Find a support group or other source of help. Orphan Drug Designation Database Find out about new and experimental orphan products. Database Subscriptions Subscriptions provide complete access to NORD's databases at libraries, schools, universities, and hospitals. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. Research For Immediate Release Contact: Linda Cataldo, NORD, 203-746-6518 NORD Awards Over $300,000 In Lysosomal Storage Disease Research Grants New Fairfield, CT, October 11, 2001. The National Organization for Rare Disorders (NORD) has awarded the first NORD Roscoe Brady Lysosomal Storage Disease (LSD) Fellowships, totaling $337,680, to five physician researchers from the U.S., Japan and Brazil. This year’s award winners will explore the causes of Fabry, Krabbe, Hunters, Gaucher (“go-shay”) and Tay-Sachs disease. Abbey Meyers, NORD’s president, says, “Our grant recipients will help solve the mysteries behind the genetic defects and enzyme deficiencies that lead to these orphan diseases.” Lysosomal storage disorders are categorized by an abnormal build-up of various toxic materials in the body’s cells that affect the skeleton, brain, skin, heart, and central nervous system. People living with one of these genetic diseases may lose function in more than one system of the body with severe medical consequences and often shortened life spans. There are currently no effective treatments for the vast majority of these diseases.

79. Krabbe's Kids Comprehensive, technical resource describes the disease and its clinical features. Includes an extensive list of resources. http://www.krabbes.com/

This Page is dedicated to all of our children. Please follow the links below to learn about our terrific kids and learn what help is available. Trevor Leeker Dalton Shell Gina Rugari Mikey Torres Gaby Manzo Adam Haines Andres Herrera Judson Torkel Ella Hudson Jamie St. Clair Anthoney Foster Joshua Cross Mathew Shilling Leandra Frye John D'Amico Kelly Blades Minna Larsson Eden Benson Sydney Trader (MLD) Aubrey Claflin Anthony Mattina Haley Sears Anthony Shell Courtney Jo Rutherford Allie Julia Beatty Angela Maria Pitra Michelle Wright Rachell Jarrell Hunter Kelly Elijah Bonney Holli Startkweather Tanner Jurek-Plasky Megan Miles Liam Hammonds Melina Sevilla Makayla Lynn Pike Saschy Eichhorn Trevor Garbe Bryan Walters Logan Windley Ava Francisco Maddie Heflin Krabbe Demographic Study sponsored by Hunter's Hope Foundation Please fill out the demographics information by clicking the link above.

80. Krabbe's Disease (www.whonamedit.com) krabbe's disease An inborn neurodegenerative disorder of infancy due to theaccumulation of galactocerebroside in the tissues. krabbe's disease http://www.whonamedit.com/synd.cfm/1457.html

Home List categories Eponyms A-Z Biographies by country ... Contact Krabbe's disease Also known as: Krabbe's syndrome I Krabbe's leukodystrophy Synonyms: Diffuse globoid body sclerosis, diffuse globoid cell cerebral scleroris, familial infantile diffuse brain sclerosis, galactocerebroside beta-galactosidase deficiency, galactosyl ceramide lipoidosis, galactosylceramide lipoidosis, globoid cell brain sclerosis, globoid cell cerebral sclerosis, globoid cell leukodystrophy, globoid cell sclerosis, globoid leukodystrophy, leukodystrophia cerebri. Associated persons: Knud Haraldsen Krabbe Description: An inborn neurodegenerative disorder of infancy due to the accumulation of galactocerebroside in the tissues. This is a result of a primary deficiency of galactocerebrosidase, the white matter of the brain, causing demyelination in the presence of inclusion bodies in the Schwann cells. The acute infantile form (90 percent of cases) is characterized by onset of symptoms before the age of 6 months and death by the end of first year of life, survival beyond 2 years being very rare. Clinically the child fails to thrive and develops seizures, deafness, blindness, cachexia, paralysis, and marked mental deficiency. The disease is assumed to be of genetical nature, but both dominant and recessive types have been described. There is also a rare juvenile and an adult form. Bibliography: K. H. Krabbe:

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