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Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
[canavan disease]
Prenatal
diagnosis
of
Canavan
disease
by
measuring
N-
acetylaspartic
acid
(
NAA
)
in
amniotic
fluid
is
reliable
and
preferred
over
aspartoacylase
enzyme
assay
especially
in
populations
with
unknown
mutations
.
Typically
based
on
GC
-
MS
,
existing
methods
are
time-consuming
and
laborious
.
We
developed
a
novel
LC
-
MS
/
MS
method
for
determination
of
NAA
in
amniotic
fluid
with
minimal
sample
preparation
.
NAA
and
d
(
3
)
-
NAA
were
detected
by
negative-ion
electrospray
ionization-
MS
/
MS
.
Quantification
was
achieved
by
standard
addition
using
six
0
.
1
mL
portions
of
each
specimen
enriched
with
increasing
NAA
amounts
(
0
,
0
.
05
,
0
.
1
,
0
.
2
,
0
.
3
,
and
0
.
4
microg
)
and
endogenous
NAA
was
calculated
by
extrapolation
.
Injection-
to
-injection
time
was
2
min
whereas
the
turn
around
time
from
sample
receipt
was
about
1
h
.
Intraday
(
n
=
10
)
and
interday
(
n
=
10
)
variations
were
less
than
9
.
4
%
.
The
reference
range
determined
using
gestation-matched
controls
(
n
=
12
)
of
1
.
1
-
2
.
7
micromol
/
L
is
in
agreement
with
the
literature
.
Specimens
from
at
-risk
pregnancies
with
established
diagnosis
(
n
=
4
)
were
successfully
analyzed
.
We
developed
a
new
method
that
enables
reliable
,
sensitive
,
and
selective
determination
of
NAA
in
a
small
volume
of
amniotic
fluid
for
the
prenatal
diagnosis
of
Canavan
disease
.
The
simple
sample
preparation
adopted
in
this
work
precluded
the
necessity
for
extraction
and
derivatization
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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