Search on: BETA-GALACTOSIDASE DEFICIENCY, GALACTOSYLCERAMIDE 
Descriptors Found: 1
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Descriptor English:   Leukodystrophy, Globoid Cell 
Descriptor Spanish:   Leucodistrofia de Células Globoides 
Descriptor Portuguese:   Leucodistrofia de Células Globoides 
Synonyms English:   Cell Leukodystrophies, Globoid
Cell Leukodystrophy, Globoid
Cell Leukoencephalopathies, Globoid
Cell Leukoencephalopathy, Globoid
Classic Globoid Cell Leukodystrophy
Deficiencies, GALC
Deficiencies, Galactocerebrosidase
Deficiencies, Galactosylceramide beta-Galactosidase
Deficiency Disease, Galactosylceramidase
Deficiency Disease, Galactosylceramide-beta-Galactosidase
Deficiency Diseases, Galactosylceramidase
Deficiency Diseases, Galactosylceramide-beta-Galactosidase
Deficiency, GALC
Deficiency, Galactocerebrosidase
Deficiency, Galactosylceramide beta-Galactosidase
Diffuse Globoid Body Sclerosis
Disease, Galactosylceramidase Deficiency
Disease, Galactosylceramide-beta-Galactosidase Deficiency
Diseases, Galactosylceramidase Deficiency
Diseases, Galactosylceramide-beta-Galactosidase Deficiency
Early Onset Globoid Cell Leukodystrophy
Early-Onset Globoid Cell Leukodystrophy
GALC Deficiencies
GALC Deficiency
Galactocerebrosidase Deficiencies
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency Disease
Galactosylceramidase Deficiency Diseases
Galactosylceramide Lipidosis
Galactosylceramide beta Galactosidase Deficiency
Galactosylceramide beta Galactosidase Deficiency Disease
Galactosylceramide beta-Galactosidase Deficiencies
Galactosylceramide beta-Galactosidase Deficiency
Galactosylceramide-beta-Galactosidase Deficiency Disease
Galactosylceramide-beta-Galactosidase Deficiency Diseases
Galactosylcerebrosidase Deficiency
Galactosylsphingosine Lipidosis
Globoid Body Sclerosis, Diffuse
Globoid Cell Leukodystrophies
Globoid Cell Leukodystrophy
Globoid Cell Leukoencephalopathies
Globoid Cell Leukoencephalopathy
Globoid Leukodystrophies
Globoid Leukodystrophy
Infantile Globoid Cell Leukodystrophy
Krabbe Disease
Krabbe Leukodystrophy
Krabbe's Disease
Krabbe's Leukodystrophy
Krabbes Disease
Krabbes Leukodystrophy
Late Onset Globoid Cell Leukodystrophy
Late-Onset Globoid Cell Leukodystrophy
Leukodystrophies, Globoid
Leukodystrophies, Globoid Cell
Leukodystrophy, Globoid
Leukodystrophy, Globoid Cell, Classic
Leukodystrophy, Globoid Cell, Early-Onset
Leukodystrophy, Globoid Cell, Infantile
Leukodystrophy, Globoid Cell, Late-Onset
Leukodystrophy, Krabbe
Leukodystrophy, Krabbe's
Leukoencephalopathies, Globoid Cell
Leukoencephalopathy, Globoid Cell
Psychosine Lipidosis
beta-Galactosidase Deficiencies, Galactosylceramide
beta-Galactosidase Deficiency, Galactosylceramide  
Tree Number:   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
Definition English:   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. 
See Related English:   Galactosylceramidase
 
History Note English:   1974(1963) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   8142 
Unique Identifier:   D007965 

Occurrence in VHL:
 

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