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
|
| 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
|
| 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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 2012 | 1 | 1 | 2 |
| 2015 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Leukodystrophy, Globoid Cell" by people in Profiles.
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Waning efficacy in a long-term AAV-mediated gene therapy study in the murine model of Krabbe disease. Mol Ther. 2021 05 05; 29(5):1883-1902.
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Quantum dots and potential therapy for Krabbe's disease. J Neurosci Res. 2016 11; 94(11):1293-303.
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Ethical and policy issues in newborn screening of children for neurologic and developmental disorders. Pediatr Clin North Am. 2015 Jun; 62(3):787-98.
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Parents: critical stakeholders in expanding newborn screening. J Pediatr. 2012 Sep; 161(3):385-9.
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Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique. J Pediatr. 2012 Aug; 161(2):258-63.e1.
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Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy. Neurochem Res. 2009 Jan; 34(1):124-37.
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Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements. J Neurosci Res. 2000 Jan 15; 59(2):179-87.
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Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosylceramide. J Neurosci Res. 2000 Jan 15; 59(2):170-8.
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Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer. Biochem Biophys Res Commun. 1996 Jan 26; 218(3):766-71.
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Pathological case of the month. Globoid cell leukodystrophy (Krabbe's disease). Arch Pediatr Adolesc Med. 1995 Oct; 149(10):1173-4.