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Details for phenotype: Krabbe disease

EndoNet ID: ENP00380

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
OMIM 245200
MeSH term D007965
Disease database 29468

Phenotype triggers

  • more activity (high ligand concentration, overexpression) of Psychosine receptor
    in brain
    • 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
    in macrophage
    • The secondary accumulation of Psy in macrophages probably induces the formation of globoid cells. [4]
  • more activity (high ligand concentration, overexpression) of Psychosine receptor
    in microglial_cell_in_central_nervous_system
    • The secondary accumulation of Psy in microglia probably induces the formation of globoid cells. [4]
Reference