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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 / Early-Onset Globoid Cell Leukodystrophy / Galactosylceramide-beta-Galactosidase Deficiency Disease / Globoid Body Sclerosis, Diffuse / Globoid Cell Leukodystrophy / Globoid Leukodystrophy / Infantile Globoid Cell Leukodystrophy / Krabbe Leukodystrophy / Krabbe's Disease / Krabbe's Leukodystrophy / Late-Onset Globoid Cell Leukodystrophy / Leukodystrophy, Globoid Cell, Classic / Leukodystrophy, Globoid Cell, Early-Onset / Leukodystrophy, Globoid Cell, Infantile / Leukodystrophy, Globoid Cell, Late-Onset / Deficiency Disease, Galactosylceramidase / Deficiency Disease, Galactosylceramide-beta-Galactosidase / Deficiency Diseases, Galactosylceramidase / Deficiency Diseases, Galactosylceramide-beta-Galactosidase / Disease, Galactosylceramidase Deficiency / Disease, Galactosylceramide-beta-Galactosidase Deficiency / Diseases, Galactosylceramidase Deficiency / Diseases, Galactosylceramide-beta-Galactosidase Deficiency / Early Onset Globoid Cell Leukodystrophy / Galactosylceramidase Deficiency Diseases / Galactosylceramide beta Galactosidase Deficiency Disease / Galactosylceramide-beta-Galactosidase Deficiency Diseases / Globoid Cell Leukodystrophies / Globoid Leukodystrophies / Krabbes Disease / Krabbes Leukodystrophy / Late Onset Globoid Cell Leukodystrophy / Leukodystrophies, Globoid / Leukodystrophies, Globoid Cell / Leukodystrophy, Globoid / Leukodystrophy, Krabbe / Leukodystrophy, Krabbe's
See also:
Galactosylceramidase   

MeSH 2010 © U.S. National Library of Medicine®.
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  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.


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  Web resources for "Leukodystrophy, Globoid Cell"
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view the robot description of the site Krabbé Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com  
view the HON description of the site HONcode - Krabbe disease - Genetics Home Referenceghr.nlm.nih.gov 2
view the robot description of the site Krabbe Disease (Globoid cell leukodystrophy)www.virtualneurocentre.com  
view the robot description of the site Krabbe Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 2
view the HON description of the site HONcode - Krabbe disease: MedlinePlus Medical Encyclopediawww.nlm.nih.gov 2
view the HON description of the site 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  
view the HON description of the site HONcode - Orphanet: Krabbe diseasewww.orpha.net 2
view the robot description of the site Whonamedit - Krabbe's diseasewww.whonamedit.com  
view the robot description of the site The Family Village / Library / Leukodystrophywww.familyvillage.wisc.edu  
 
 

See also: - Galactosylceramidase

Broader term(s): - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Demyelinating Diseases
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  Medical image(s) for "Leukodystrophy, Globoid Cell"
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Broader term(s): - Brain Diseases, Metabolic - Brain Diseases - Nervous System Diseases
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  Medical News for "Leukodystrophy, Globoid Cell"
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Broader term(s): - Nervous System Diseases

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  Scientific articles from MEDLINE for "Leukodystrophy, Globoid Cell"
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  Clinical Trials for "Leukodystrophy, Globoid Cell"
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Broader term(s): - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Demyelinating Diseases

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  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®.

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