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LEUKODYSTROPHY, GLOBOID CELL
Descriptors Found:
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DeCS
Descriptor
English
:
Leukodystrophy, Globoid Cell
Descriptor
Spanish
:
Leucodistrofia de Células Globoides
Descriptor
Portuguese
:
Leucodistrofia de Células Globoides
Synonyms
English
:
Krabbe Disease
Diffuse Globoid Body Sclerosis
Galactosylceramidase Deficiency Disease
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
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
8142
Unique Identifier:
D007965
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS