Rare Diseases Symptoms Automatic Extraction
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A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.
[gm1 gangliosidosis]
The
most
widely
used
method
for
the
biochemical
screening
of
oligosaccharidoses
is
the
analysis
of
the
urinary
oligosaccharide
pattern
by
thin
-layer
chromatography
on
silica
gel
plates
.
However
,
this
method
is
not
always
sensitive
enough
,
and
it
is
extremely
time-consuming
and
laborious
.
In
this
work
,
the
analysis
of
the
urine
oligosaccharide
pattern
was
standardized
for
the
first
time
by
using
capillary
electrophoresis
with
laser-induced
fluorescence
(
CE-
LIF
)
detection
(
Beckman
P
/
ACE
MDQ
)
with
a
488
-
nm
argon
ion
laser
module
.
All
of
the
analyses
were
conducted
using
the
Carbohydrate
Labeling
and
Analysis
Kit
(
Beckman-
Coulter
)
,
which
derivatizes
samples
with
8
-
aminopyrene-
1
,
3
,
6
-
trisulfonate
.
Urine
samples
from
40
control
subjects
(
age
range
,
1
week
to
16
years
)
and
from
ten
patients
diagnosed
with
eight
different
lysosomal
diseases
(
six
of
them
included
in
the
Educational
Oligosaccharide
Kit
from
ERNDIM
EQA
schemes
)
were
analyzed
.
Two
oligosaccharide
excretion
patterns
were
established
in
our
control
population
according
to
age
(
younger
or
older
than
1
year
of
age
)
.
Abnormal
peaks
with
slower
migration
times
than
the
tetrasaccharide
position
were
observed
for
fucosidosis
,
α-mannosidosis
,
GM
1
gangliosidosis
,
GM
2
gangliosidosis
variant
0
,
Pompe
disease
,
and
glycogen
storage
disease
type
3
.
In
conclusion
,
the
first
CE-
LIF
method
to
screen
for
oligosaccharidoses
and
related
diseases
,
which
also
present
oligosacchariduria
,
has
been
standardized
.
In
all
of
the
cases
,
the
urine
oligosaccharide
analysis
was
strongly
informative
and
showed
abnormal
patterns
that
were
not
present
in
any
of
the
urine
samples
from
the
control
subjects
.
Only
urine
from
patients
with
aspartylglucosaminuria
and
Schindler
disease
displayed
normal
results
.
Diseases
Validation
Diseases presenting
"aspartylglucosaminuria"
symptom
adrenomyeloneuropathy
gm1 gangliosidosis
This symptom has already been validated
