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Rapid detection of GM1 ganglioside in cerebrospinal fluid in dogs with GM1 gangliosidosis using matrix-assisted laser desorption ionization time-of-flight mass spectrometry.
[gm1 gangliosidosis]
The
concentration
of
GM
1
(
monosialotetrahexosyl
ganglioside
)
in
cerebrospinal
fluid
(
CSF
)
is
markedly
increased
in
dogs
with
GM
1
gangliosidosis
due
to
GM
1
accumulation
in
the
central
nervous
system
and
leakage
to
the
CSF
.
The
present
study
established
a
rapid
and
simple
method
for
detection
of
accumulated
GM
1
in
the
CSF
in
dogs
with
GM
1
gangliosidosis
using
matrix-assisted
laser
desorption
ionization
time-of-flight
mass
spectrometry
(
MALDI
TOF
MS
)
and
discusses
the
usefulness
of
this
method
for
the
rapid
diagnosis
and
/
or
high
-risk
screening
of
this
disease
in
domestic
animals
.
Cerebrospinal
fluid
was
collected
from
normal
dogs
and
4
-
to
11
-
month
-old
Shiba
dogs
with
GM
1
gangliosidosis
.
The
MALDI
TOF
MS
analysis
was
carried
out
in
combination
with
a
special
sample
plate
and
a
simple
desalting
step
on
the
plate
.
Specific
signs
of
GM
1
could
be
detected
in
the
standard
GM
1
solutions
at
concentrations
of
50
nmol
/
l
or
more
.
The
signs
were
also
clearly
detected
in
CSF
(
131
-
618
nmol
/
l
)
in
affected
dogs
,
but
not
in
normal
canine
CSF
(
12
±
5
nmol
/
l
,
mean
±
standard
deviation
)
.
The
results
demonstrated
that
MALDI
TOF
MS
can
detect
GM
1
accumulated
in
canine
CSF
even
in
the
early
stage
of
the
disease
.
In
conclusion
,
the
rapid
detection
of
increased
CSF
GM
1
using
MALDI
TOF
MS
is
a
useful
method
for
diagnosis
and
/
or
screening
for
canine
GM
1
gangliosidosis
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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