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LEUKODYSTROPHY, METACHROMATIC
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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:
C10.228.140.163.100.362.550
C10.228.140.163.100.435.825.850.500
C10.228.140.695.625.550
C10.314.400.550
C16.320.565.189.362.550
C16.320.565.189.435.825.850.500
C16.320.565.398.641.803.925.500
C16.320.565.595.554.825.850.500
C18.452.132.100.362.550
C18.452.132.100.435.825.850.500
C18.452.584.687.803.925.500
C18.452.648.189.362.550
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
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
:
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:
8143
Unique Identifier:
D007966
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
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