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Leukodystrophy, Globoid Cell MeSH Descriptor Data 2022


MeSH Heading
Leukodystrophy, Globoid Cell
Tree 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
C18.452.584.563.641.803.585
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
Unique ID
D007965
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D007965
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.
Entry Term(s)
Classic Globoid Cell Leukodystrophy
Diffuse Globoid Body Sclerosis
Early-Onset Globoid Cell Leukodystrophy
GALC Deficiency
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency Disease
Galactosylceramide Lipidosis
Galactosylceramide beta-Galactosidase Deficiency
Galactosylceramide-beta-Galactosidase Deficiency Disease
Galactosylcerebrosidase Deficiency
Galactosylsphingosine Lipidosis
Globoid Body Sclerosis, Diffuse
Globoid Cell Leukodystrophy
Globoid Cell Leukoencephalopathy
Globoid Leukodystrophy
Infantile Globoid Cell Leukodystrophy
Krabbe Disease
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
Psychosine Lipidosis
See Also
Galactosylceramidase
Public MeSH Note
1974; see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for LEUKODYSTROPHIES see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for KRABBE DISEASE see KRABBE'S DISEASE 1974-1997
History Note
1974(1963)
Date Established
1974/01/01
Date of Entry
1999/01/01
Revision Date
2021/07/01
Leukodystrophy, Globoid Cell Preferred
Late-Onset Globoid Cell Leukodystrophy Narrower
Early-Onset Globoid Cell Leukodystrophy Narrower
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