- Concept UI
- M0012415
- 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.
- Terms
-
Leukodystrophy, Globoid Cell
Preferred Term
Term UI
T023745
Date01/01/1999
LexicalTag
NON
ThesaurusID
NLM (1974)
-
Globoid Cell Leukoencephalopathy
Term UI
T749760
Date04/22/2009
LexicalTag
NON
ThesaurusID
-
Galactocerebrosidase Deficiency
Term UI
T811705
Date11/15/2011
LexicalTag
NON
ThesaurusID
-
GALC Deficiency
Term UI
T817359
Date02/06/2012
LexicalTag
ABX
ThesaurusID
-
Galactosylceramide beta-Galactosidase Deficiency
Term UI
T817360
Date02/06/2012
LexicalTag
NON
ThesaurusID
-
Galactosylceramide Lipidosis
Term UI
T841838
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Galactosylcerebrosidase Deficiency
Term UI
T841839
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Galactosylsphingosine Lipidosis
Term UI
T841840
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Psychosine Lipidosis
Term UI
T841841
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Krabbe's Disease
Term UI
T023743
Date10/23/1996
LexicalTag
EPO
ThesaurusID
NLM (1998)
-
Krabbe Disease
Term UI
T023744
Date03/30/1974
LexicalTag
EPO
ThesaurusID
-
Diffuse Globoid Body Sclerosis
Term UI
T368930
Date11/08/1999
LexicalTag
NON
ThesaurusID
-
Galactosylceramidase Deficiency Disease
Term UI
T368931
Date11/08/1999
LexicalTag
NON
ThesaurusID
-
Galactosylceramide-beta-Galactosidase Deficiency Disease
Term UI
T368940
Date11/08/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Globoid Body Sclerosis, Diffuse
Term UI
T368941
Date11/08/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Globoid Leukodystrophy
Term UI
T368942
Date11/08/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Krabbe Leukodystrophy
Term UI
T368943
Date11/08/1999
LexicalTag
EPO
ThesaurusID
-
Globoid Cell Leukodystrophy
Term UI
T647487
Date07/29/2005
LexicalTag
NON
ThesaurusID
-
Krabbe's Leukodystrophy
Term UI
T368944
Date11/08/1999
LexicalTag
EPO
ThesaurusID
NLM (2000)