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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
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated