Concept information
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Hereditary Central Nervous System Demyelinating Diseases
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Hereditary Central Nervous System Demyelinating Diseases
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Central Nervous System Diseases
Brain Diseases
Leukoencephalopathies
Hereditary Central Nervous System Demyelinating Diseases
Nervous System Diseases
Demyelinating Diseases
Hereditary Central Nervous System Demyelinating Diseases
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Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
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Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
Preferred term
Leukodystrophy, Globoid Cell
Type
-
Topical Descriptor
Entry terms
- beta-Galactosidase Deficiencies, Galactosylceramide
- beta-Galactosidase Deficiency, Galactosylceramide
- Cell Leukoencephalopathies, Globoid
- Cell Leukoencephalopathy, Globoid
- Deficiencies, Galactocerebrosidase
- Deficiencies, Galactosylceramide beta-Galactosidase
- Deficiencies, GALC
- Deficiency Disease, Galactosylceramidase
- Deficiency Disease, Galactosylceramide-beta-Galactosidase
- Deficiency Diseases, Galactosylceramidase
- Deficiency Diseases, Galactosylceramide-beta-Galactosidase
- Deficiency, Galactocerebrosidase
- Deficiency, Galactosylceramide beta-Galactosidase
- Deficiency, GALC
- Diffuse Globoid Body Sclerosis
- Disease, Galactosylceramidase Deficiency
- Disease, Galactosylceramide-beta-Galactosidase Deficiency
- Diseases, Galactosylceramidase Deficiency
- Diseases, Galactosylceramide-beta-Galactosidase Deficiency
- Galactocerebrosidase Deficiencies
- Galactocerebrosidase Deficiency
- Galactosylceramidase Deficiency Disease
- Galactosylceramidase Deficiency Diseases
- Galactosylceramide beta-Galactosidase Deficiencies
- Galactosylceramide beta Galactosidase Deficiency
- Galactosylceramide beta-Galactosidase Deficiency
- Galactosylceramide beta Galactosidase Deficiency Disease
- Galactosylceramide-beta-Galactosidase Deficiency Disease
- Galactosylceramide-beta-Galactosidase Deficiency Diseases
- Galactosylceramide Lipidosis
- Galactosylcerebrosidase Deficiency
- Galactosylsphingosine Lipidosis
- GALC Deficiencies
- GALC Deficiency
- Globoid Body Sclerosis, Diffuse
- Globoid Cell Leukodystrophy
- Globoid Cell Leukoencephalopathies
- Globoid Cell Leukoencephalopathy
- Globoid Leukodystrophies
- Globoid Leukodystrophy
- Krabbe Disease
- Krabbe Leukodystrophy
- Krabbe's Disease
- Krabbes Disease
- Krabbe's Leukodystrophy
- Krabbes Leukodystrophy
- Leukodystrophies, Globoid
- Leukodystrophy, Globoid
- Leukodystrophy, Krabbe
- Leukodystrophy, Krabbe's
- Leukoencephalopathies, Globoid Cell
- Leukoencephalopathy, Globoid Cell
- Psychosine Lipidosis
Scope note
- 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.
History note
- 1974(1963)
In other languages
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Finnish
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Krabbe
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morbus Krabbe
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Swedish
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Krabbes sjukdom
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Sen debut av globoidcellsleukodystrofi
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Tidig debut av globoidcellsleukodystrofi
URI
http://www.yso.fi/onto/mesh/D007965
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