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TAY-SACHS DISEASE, AB VARIANT
Descriptors Found:
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DeCS
Descriptor
English
:
Tay-Sachs Disease, AB Variant
Descriptor
Spanish
:
Enfermedad de Tay-Sachs Variante AB
Descriptor
Portuguese
:
Doença de Tay-Sachs Variante AB
Synonyms
English
:
Gangliosidosis GM2, AB Variant
Gangliosidosis GM2, Type AB
GM2 Protein Activator Deficiency Disease
Tree Number:
C10.228.140.163.100.435.825.300.300.750
C16.320.565.189.435.825.300.300.750
C16.320.565.398.641.803.350.300.925
C16.320.565.595.554.825.300.300.920
C18.452.132.100.435.825.300.300.750
C18.452.584.687.803.350.300.925
C18.452.648.189.435.825.300.300.750
C18.452.648.398.641.803.350.300.925
C18.452.648.595.554.825.300.300.920
Definition
English
:
A progressive neurodegenerative disorder that begins with
muscle weakness
, then progresses to
startle reaction
, retardation and
seizures
. It is characterized by the accumulation of G(M2) GANGLIOSIDE in
neurons
that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both
HEXOSAMINIDASE A
and
HEXOSAMINIDASE B
in
tissues
that lack of G(M2) activator protein.
See Related
English
:
G(M2) Activator Protein
History Note
English
:
2005(2000); use GANGLIOSIDOSES GM2 2000-2004
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:
38631
Unique Identifier:
D049290
Occurrence in VHL
:
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