HONselect PATIENT / INDIVIDUAL MEDICAL PROFESSIONAL WEB PUBLISHER

Hierarchy  - English - French - German - Spanish - Portuguese - Italian - Dutch    Leukodystrophy, Globoid Cell Definition: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses. Synonym(s): Diffuse Globoid Body Sclerosis / Galactosylceramidase Deficiency Disease / Krabbe Disease / Classic Globoid Cell Leukodystrophy / See also: Galactosylceramidase    MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

More information from the Genetics Home Reference Website What is Krabbe disease? Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of glo ... How common is Krabbe disease? In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel. More information from the Genetics Home Reference Website © Genetics Home Reference Browse - New search       Web resources for "Leukodystrophy, Globoid Cell"   English (10)  French (2)  German (1)  Spanish (2)       = Site with HON description   -   = Site with a robot description info: enter the site: (click below) domain of the site:   Krabbé Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com www.wrongdiagnosis.com   HONcode - Krabbe disease - Genetics Home Reference ghr.nlm.nih.gov 2 Krabbe Disease (Globoid cell leukodystrophy) www.virtualneurocentre.com   Krabbe Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS) www.ninds.nih.gov 2 HONcode - Krabbe disease: MedlinePlus Medical Encyclopedia www.nlm.nih.gov 2 HONcode - Shire to Present Important Study Findings for Gaucher Disease Treatment and GLD Development Program at the Lysosomal Disease Network (LDN) World Symposium - Dru... www.drugs.com   HONcode - Orphanet: Krabbe disease www.orpha.net 2 Whonamedit - Krabbe's disease www.whonamedit.com   The Family Village / Library / Leukodystrophy www.familyvillage.wisc.edu   See also: - Galactosylceramidase Broader term(s): - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Demyelinating Diseases Browse - New search       Medical image(s) for "Leukodystrophy, Globoid Cell" No results for this term. Browse other medical images in HONmedia? Broader term(s): - Brain Diseases, Metabolic - Brain Diseases Browse - New search       Medical News for "Leukodystrophy, Globoid Cell" No results for this term. More health news Broader term(s): - Nervous System Diseases Browse - New search       Scientific articles from MEDLINE for "Leukodystrophy, Globoid Cell"   - English - French - German - Spanish - Portuguese - Italian - Dutch     All recent articles  Therapy:  by recall    /  by precision  Diagnosis:  by recall    /  by precision  Etiology:  by recall    /  by precision  Prognosis:  by recall    /  by precision Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy Browse - New search       Clinical Trials for "Leukodystrophy, Globoid Cell" ClinicalTrials.gov - Linking patients to medical research An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD) The Natural History of Infantile Globoid Cell Leukodystrophy Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation HSCT for High Risk Inherited Inborn Errors   More results Broader term(s): - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Demyelinating Diseases Browse - New search       Medical Conferences/Events for "Leukodystrophy, Globoid Cell" No results for this term. Consult HON's world-wide database of medical meetings Browse - New search       Refine the search for  "Leukodystrophy, Globoid Cell" Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy   Broader term(s):       Diseases           Nutritional and Metabolic Diseases               Metabolic Diseases                   Metabolism, Inborn Errors                       Lysosomal Storage Diseases                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses                        Lipid Metabolism, Inborn Errors                           Lipidoses                               Sphingolipidoses                        Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses        Diseases           Nutritional and Metabolic Diseases               Metabolic Diseases                   Lipid Metabolism Disorders                       Lipidoses                           Sphingolipidoses                    Brain Diseases, Metabolic                       Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses        Diseases           Congenital, Hereditary, and Neonatal Diseases and Abnormalities               Genetic Diseases, Inborn                   Metabolism, Inborn Errors                       Lysosomal Storage Diseases                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses                        Lipid Metabolism, Inborn Errors                           Lipidoses                               Sphingolipidoses                        Brain Diseases, Metabolic, Inborn                           Lysosomal Storage Diseases, Nervous System                               Sphingolipidoses        Diseases           Nervous System Diseases               Demyelinating Diseases                   Hereditary Central Nervous System Demyelinating Diseases                Central Nervous System Diseases                   Brain Diseases                       Brain Diseases, Metabolic                           Brain Diseases, Metabolic, Inborn                               Lysosomal Storage Diseases, Nervous System                                   Sphingolipidoses  MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

Most frequently used terms List of Rare Disease Add HONselect Extract MeSH Home About us MediaCorner HON newsletter Site map Ethical policies Contact /HONselect/RareDiseases/EN/C10.228.140.163.100.435.825.590.html last modified: May 1 2013 © copyright HON 2013