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Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.
[gm1 gangliosidosis]
Oligosaccharidoses
,
which
belong
to
the
lysosomal
storage
diseases
,
are
inherited
metabolic
disorders
due
to
the
absence
or
the
loss
of
function
of
one
of
the
enzymes
involved
in
the
catabolic
pathway
of
glycoproteins
and
indirectly
of
glycosphingolipids
.
This
enzymatic
deficiency
typically
results
in
the
abnormal
accumulation
of
uncompletely
degraded
oligosaccharides
in
the
urine
.
Since
the
clinical
features
of
many
of
these
disorders
are
not
specific
for
a
single
enzyme
deficiency
,
unambiguous
screening
is
critical
to
limit
the
number
of
costly
enzyme
assays
which
otherwise
must
be
performed
.
Here
we
provide
evidence
for
the
advantages
of
using
a
MALDI-TOF
/
TOF
(
matrix-assisted
laser
desorption
ionization
time-of-flight
)
mass
spectrometric
(
MS
)
method
for
screening
oligosaccharidoses
.
Urine
samples
from
previously
diagnosed
patients
or
from
unaffected
subjects
were
randomly
divided
into
a
training
set
and
a
blind
testing
set
.
Samples
were
directly
analyzed
without
prior
treatment
.
The
characteristic
MS
and
MS
/
MS
molecular
profiles
obtained
allowed
us
to
identify
fucosidosis
,
aspartylglucosaminuria
,
GM
1
gangliosidosis
,
Sandhoff
disease
,
α-mannosidosis
,
sialidosis
and
mucolipidoses
type
II
and
III
.
T
his
method
,
which
is
easily
run
in
less
than
30
minutes
,
is
performed
in
a
single
step
,
and
is
sensitive
and
specific
.
Invaluable
for
clinical
chemistry
purposes
this
MALDI-TOF
/
TOF
mass
spectrometry
procedure
is
semi-automatizable
and
suitable
for
the
urinary
screening
of
oligosacharidoses
.
Diseases
Validation
Diseases presenting
"previously diagnosed patients"
symptom
gm1 gangliosidosis
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