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Quantification of psychosine in the serum of twitcher mouse by LC-ESI-tandem-MS analysis.
[krabbe disease]
Globoid
cell
leukodystrophy
or
Krabbe
disease
is
an
inherited
autosomal
recessive
disorder
caused
by
mutations
in
the
galactosylceramidase
(
GALC
)
gene
.
Deficiency
of
GALC
results
in
the
accumulation
of
a
highly
cytotoxic
metabolite
galactosylsphingosine
(
psychosine
)
.
In
the
present
study
,
we
describe
the
development
and
validation
of
a
sensitive
and
specific
LC
-
ESI
-tandem-
MS
method
for
the
determination
of
psychosine
in
the
serum
of
twitcher
mice
,
the
naturally
occurring
animal
model
of
this
disease
.
The
method
was
validated
in
terms
of
accuracy
,
precision
,
specificity
,
linearity
and
sensitivity
.
Calibration
plots
were
linear
over
the
concentration
range
of
2
.
5
-
50
ng
/
mL
.
Recovery
of
psychosine
from
serum
was
in
the
range
94
.
20
-
98
.
02
%
.
The
results
of
this
study
show
that
in
the
affected
mice
the
concentration
of
psychosine
(
ranging
from
2
.
53
to
33
.
27
ng
/
mL
)
increased
significantly
with
the
progression
of
the
disease
.
The
maximum
level
(
33
.
27
ng
/
mL
)
was
detected
in
the
serum
of
one
of
the
twitcher
mice
sacrificed
at
40
PND
.
Psychosine
was
not
detected
at
significant
levels
in
wild
type
mice
.
These
results
clearly
demonstrate
that
this
noninvasive
,
rapid
,
and
highly
sensitive
LC
-
ESI
-tandem-
MS
method
is
a
very
useful
approach
for
the
detection
of
psychosine
in
serum
.
