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KRABBE DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Leukodystrophy, Globoid Cell
Descriptor
Spanish
:
Leucodistrofia de Células Globoides
Descriptor
Portuguese
:
Leucodistrofia de Células Globóides
Synonyms
English
:
Krabbe Disease
Diffuse Globoid Body Sclerosis
Galactosylceramidase Deficiency Disease
Tree Number:
C10.228.140.163.100.435.825.590
C10.314.400.500
C16.320.565.189.435.825.590
C16.320.565.398.641.803.585
C16.320.565.595.554.825.590
C18.452.132.100.435.825.590
C18.452.584.687.803.585
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
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
8142
Unique Identifier:
D007965
Occurrence in VHL
:
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