Leukodystrophy, Globoid Cell
"Leukodystrophy, Globoid Cell" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D007965
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MeSH Number(s) |
C10.228.140.163.100.362.500 C10.228.140.163.100.435.825.590 C10.228.140.695.625.500 C10.314.400.500 C16.320.565.189.362.500 C16.320.565.189.435.825.590 C16.320.565.398.641.803.585 C16.320.565.595.554.825.590 C18.452.132.100.362.500 C18.452.132.100.435.825.590 C18.452.584.687.803.585 C18.452.648.189.362.500 C18.452.648.189.435.825.590 C18.452.648.398.641.803.585 C18.452.648.595.554.825.590
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Concept/Terms |
Leukodystrophy, Globoid Cell- Leukodystrophy, Globoid Cell
- Cell Leukodystrophies, Globoid
- Cell Leukodystrophy, Globoid
- Globoid Cell Leukodystrophies
- Leukodystrophies, Globoid Cell
- Galactosylceramidase Deficiency Disease
- Deficiency Disease, Galactosylceramidase
- Deficiency Diseases, Galactosylceramidase
- Disease, Galactosylceramidase Deficiency
- Diseases, Galactosylceramidase Deficiency
- Galactosylceramidase Deficiency Diseases
- Galactosylceramide beta-Galactosidase Deficiency
- Deficiencies, Galactosylceramide beta-Galactosidase
- Deficiency, Galactosylceramide beta-Galactosidase
- Galactosylceramide beta Galactosidase Deficiency
- Galactosylceramide beta-Galactosidase Deficiencies
- beta-Galactosidase Deficiencies, Galactosylceramide
- beta-Galactosidase Deficiency, Galactosylceramide
- Galactosylceramide-beta-Galactosidase Deficiency Disease
- Deficiency Disease, Galactosylceramide-beta-Galactosidase
- Deficiency Diseases, Galactosylceramide-beta-Galactosidase
- Disease, Galactosylceramide-beta-Galactosidase Deficiency
- Diseases, Galactosylceramide-beta-Galactosidase Deficiency
- Galactosylceramide beta Galactosidase Deficiency Disease
- Galactosylceramide-beta-Galactosidase Deficiency Diseases
- GALC Deficiency
- Deficiencies, GALC
- Deficiency, GALC
- GALC Deficiencies
- Globoid Body Sclerosis, Diffuse
- Globoid Cell Leukodystrophy
- Globoid Cell Leukoencephalopathy
- Cell Leukoencephalopathies, Globoid
- Cell Leukoencephalopathy, Globoid
- Globoid Cell Leukoencephalopathies
- Leukoencephalopathies, Globoid Cell
- Leukoencephalopathy, Globoid Cell
- Globoid Leukodystrophy
- Globoid Leukodystrophies
- Leukodystrophies, Globoid
- Leukodystrophy, Globoid
- Krabbe Disease
- Krabbe Leukodystrophy
- Leukodystrophy, Krabbe
- Krabbe's Disease
- Krabbes Disease
- Krabbe's Leukodystrophy
- Krabbes Leukodystrophy
- Leukodystrophy, Krabbe's
- Galactosylceramide Lipidosis
- Galactosylcerebrosidase Deficiency
- Galactosylsphingosine Lipidosis
- Psychosine Lipidosis
- Diffuse Globoid Body Sclerosis
- Galactocerebrosidase Deficiency
- Deficiencies, Galactocerebrosidase
- Deficiency, Galactocerebrosidase
- Galactocerebrosidase Deficiencies
Early-Onset Globoid Cell Leukodystrophy- Early-Onset Globoid Cell Leukodystrophy
- Early Onset Globoid Cell Leukodystrophy
- Leukodystrophy, Globoid Cell, Classic
- Classic Globoid Cell Leukodystrophy
- Leukodystrophy, Globoid Cell, Infantile
- Infantile Globoid Cell Leukodystrophy
- Leukodystrophy, Globoid Cell, Early-Onset
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Below are MeSH descriptors whose meaning is more general than "Leukodystrophy, Globoid Cell".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
- Leukodystrophy, Globoid Cell [C10.228.140.163.100.362.500]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Sphingolipidoses [C10.228.140.163.100.435.825]
- Leukodystrophy, Globoid Cell [C10.228.140.163.100.435.825.590]
- Leukoencephalopathies [C10.228.140.695]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.695.625]
- Leukodystrophy, Globoid Cell [C10.228.140.695.625.500]
- Demyelinating Diseases [C10.314]
- Hereditary Central Nervous System Demyelinating Diseases [C10.314.400]
- Leukodystrophy, Globoid Cell [C10.314.400.500]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Hereditary Central Nervous System Demyelinating Diseases [C16.320.565.189.362]
- Leukodystrophy, Globoid Cell [C16.320.565.189.362.500]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Sphingolipidoses [C16.320.565.189.435.825]
- Leukodystrophy, Globoid Cell [C16.320.565.189.435.825.590]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sphingolipidoses [C16.320.565.398.641.803]
- Leukodystrophy, Globoid Cell [C16.320.565.398.641.803.585]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sphingolipidoses [C16.320.565.595.554.825]
- Leukodystrophy, Globoid Cell [C16.320.565.595.554.825.590]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Hereditary Central Nervous System Demyelinating Diseases [C18.452.132.100.362]
- Leukodystrophy, Globoid Cell [C18.452.132.100.362.500]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Sphingolipidoses [C18.452.132.100.435.825]
- Leukodystrophy, Globoid Cell [C18.452.132.100.435.825.590]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Leukodystrophy, Globoid Cell [C18.452.584.687.803.585]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Hereditary Central Nervous System Demyelinating Diseases [C18.452.648.189.362]
- Leukodystrophy, Globoid Cell [C18.452.648.189.362.500]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sphingolipidoses [C18.452.648.189.435.825]
- Leukodystrophy, Globoid Cell [C18.452.648.189.435.825.590]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sphingolipidoses [C18.452.648.398.641.803]
- Leukodystrophy, Globoid Cell [C18.452.648.398.641.803.585]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sphingolipidoses [C18.452.648.595.554.825]
- Leukodystrophy, Globoid Cell [C18.452.648.595.554.825.590]
Below are MeSH descriptors whose meaning is more specific than "Leukodystrophy, Globoid Cell".
This graph shows the total number of publications written about "Leukodystrophy, Globoid Cell" by people in this website by year, and whether "Leukodystrophy, Globoid Cell" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2012 | 1 | 0 | 1 |
2013 | 1 | 0 | 1 |
2019 | 0 | 1 | 1 |
2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Leukodystrophy, Globoid Cell" by people in Profiles.
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Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease. J Biomol Struct Dyn. 2021 Mar; 39(5):1795-1810.
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Emerging links between pediatric lysosomal storage diseases and adult parkinsonism. Mov Disord. 2019 05; 34(5):614-624.
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Diffusion tensor imaging: A biomarker of outcome in Krabbe's disease. J Neurosci Res. 2016 11; 94(11):1108-15.
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Novel diffusion tensor imaging findings in Krabbe disease. Eur J Paediatr Neurol. 2014 Mar; 18(2):150-6.
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Intracranial optic nerve enlargement in infantile Krabbe disease. Neurology. 2012 May 15; 78(20):e126.
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Serial MRI and CT findings in infantile Krabbe disease. Pediatr Neurol. 1992 Nov-Dec; 8(6):455-8.