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Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease.
[canavan disease]
Canavan
disease
is
an
autosomal
recessive
leukodystrophy
characterized
by
excessive
excretion
of
N-
acetylaspartic
acid
(
NAA
)
in
urine
.
The
disease
is
caused
by
deficiency
of
aspartoacylase
,
the
enzyme
responsible
for
the
hydrolysis
of
NAA
into
acetate
and
l-aspartate
.
Patients
,
who
are
often
asymptomatic
in
their
early
months
,
show
a
wide
spectrum
of
clinical
presentation
thereafter
that
includes
macrocephaly
,
poor
head
control
,
seizures
,
abnormal
muscle
tone
,
optic
atrophy
,
significant
developmental
delay
and
death
.
In
this
work
,
we
describe
a
simple
liquid
chromatography-tandem
mass
spectrometry
(
LC
-
MS
/
MS
)
method
for
the
determination
of
NAA
in
urine
.
The
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
.
Detection
was
achieved
in
multiple
reaction
monitoring
(
MRM
)
mode
by
monitoring
m
/
z
174
-
-
>
88
,
174
-
-
>
130
and
174
-
-
>
58
for
NAA
and
177
-
-
>
89
for
the
internal
standard
.
Separation
was
carried
out
on
a
C
8
column
(
2
.
1
x
150
mm
)
using
a
mixture
of
acetonitrile
and
water
(
1
:
1
v
/
v
)
containing
0
.
05
%
formic
acid
at
a
flow
rate
of
0
.
25
ml
/
min
.
NAA
was
eluted
at
1
.
6
min
and
the
run
time
was
approximately
2
min
.
Using
spiked
urine
,
the
assay
was
linear
up
to
2
mmol
/
L
with
limit
of
quantification
at
1
micromol
/
L
(
S
/
N
=
12
)
.
NAA
in
patients
'
urine
(
n
=
17
)
ranged
between
366
and
21
,
235
mmol
/
mol
creatinine
compared
to
controls
of
<
39
mmol
/
mol
creatinine
(
n
=
159
)
.
This
LC
-
MS
/
MS
method
for
NAA
as
described
involved
no
extraction
and
no
derivatization
,
showed
no
interference
,
and
gave
excellent
recovery
with
low
variability
and
short
analytical
time
.
Diseases
Validation
Diseases presenting
"simple liquid chromatography-tandem mass spectrometry"
symptom
canavan disease
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