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CEREBROSIDE SULPHATASE DEFICIENCY DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Leukodystrophy, Metachromatic
Descriptor
Spanish
:
Leucodistrofia Metacromática
Descriptor
Portuguese
:
Leucodistrofia Metacromática
Synonyms
English
:
Arylsulfatase A Deficiency Disease
Cerebroside Sulphatase Deficiency Disease
Tree Number:
C10.228.140.163.100.435.825.850.500
C10.314.400.550
C16.320.565.189.435.825.850.500
C16.320.565.398.641.803.925.500
C16.320.565.595.554.825.850.500
C18.452.132.100.435.825.850.500
C18.452.584.687.803.925.500
C18.452.648.189.435.825.850.500
C18.452.648.398.641.803.925.500
C18.452.648.595.554.825.850.500
Definition
English
:
An autosomal recessive metabolic
disease
caused by a deficiency of arylsulfatase A (CEREBROSIDE-SULFATASE) leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the
nervous system
and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL
CELLS
. There are several allelic and nonallelic
forms
with a variety of neurological
symptoms
.
See Related
English
:
Cerebroside-Sulfatase
History Note
English
:
1974
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:
8143
Unique Identifier:
D007966
Occurrence in VHL
:
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