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Details for phenotype: Krabbe disease
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EndoNet ID: ENP00380
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Name
Krabbe disease
General information
This phenotype is pathologic
Globoid cell leukodystrophy (GLD; also known as Krabbe's disease) is a hereditary metabolic disorder of infants, characterized morphologically by almost total absence of myelin, severe gliosis, and the presence of characteristic, multinucleated globoid cells in the white matter.
[1]
Links to other resources
GO
negative regulation of myelination
OMIM
245200
MeSH term
D007965
Disease database
29468
Phenotype triggers
more activity (high ligand concentration, overexpression) of
Psychosine receptor
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in
brain
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Globoid cell leukodystrophy (GLD; also known as Krabbe's disease) is a hereditary metabolic disorder of infants, characterized morphologically by almost total absence of myelin, severe gliosis, and the presence of characteristic, multinucleated globoid cells in the white matter.
[1]
The deficiency of the catabolic enzyme galatosyl ceramidase results in accumulation of psychosine (PSY; d-galactosyl-β-1,1′-sphingosine) in the brain.
[1]
This accumulation of PSY in the white matter of children with GLD correlates temporally with apoptosis of oligodendrocytes and globoid cell formation by microglia.
[2]
The PSY/TDAG8 pair evokes a multinuclear phenotype in cultured cells reminiscent of the globoid cell formation that is the neurohistoligic fingerprint of Krabbe's disease.
[3]
more activity (high ligand concentration, overexpression) of
Psychosine receptor
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in
macrophage
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The secondary accumulation of Psy in macrophages probably induces the formation of globoid cells.
[4]
more activity (high ligand concentration, overexpression) of
Psychosine receptor
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in
microglial_cell_in_central_nervous_system
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The secondary accumulation of Psy in microglia probably induces the formation of globoid cells.
[4]
Reference