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Stable isotope dilution analysis of N-acetylaspartic acid in urine by liquid chromatography electrospray ionization tandem mass spectrometry.
[canavan disease]
N-
acetylaspartic
acid
(
NAA
)
is
a
specific
urinary
marker
for
Canavan
disease
,
an
autosomal
recessive
leukodystrophy
.
We
developed
a
'
dilute
and
shoot
'
stable
isotope
dilution
liquid
chromatography
tandem
mass
spectrometry
(
LC
-
MS
/
MS
)
method
for
determination
of
NAA
in
urine
.
Deuterated
internal
standard
d
(
3
)
-
NAA
was
added
to
untreated
urine
and
the
mixture
was
injected
into
the
LC
-
MS
/
MS
system
operated
in
the
negative
ion
mode
.
Chromatography
was
carried
out
on
a
C
(
8
)
minibore
column
using
50
%
acetonitrile
solution
containing
0
.
05
%
formic
acid
at
a
flow
rate
of
0
.
25
mL
/
min
.
The
retention
time
was
1
.
6
min
and
the
turnaround
time
was
2
.
2
min
.
NAA
and
d
(
3
)
-
NAA
were
analyzed
in
multiple
reaction
monitoring
mode
.
Calibrators
and
quality
control
samples
were
prepared
in
pooled
control
urine
.
The
assay
was
linear
up
to
2000
micromol
/
L
with
limit
of
quantification
at
1
micromol
/
L
(
S
/
N
=
12
)
.
Interassay
and
intraassay
coefficients
of
variation
were
less
than
7
%
and
recovery
at
three
different
concentrations
was
98
.
9
-
102
.
5
%
.
The
LC
-
MS
/
MS
method
for
NAA
as
described
involves
no
extraction
and
no
derivatization
,
showed
no
interference
and
gave
excellent
recovery
with
low
variability
and
short
analytical
time
.
The
method
was
successfully
applied
for
the
retrospective
analysis
of
urine
from
21
Canavan
disease
cases
.