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Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
the
most
common
human
peroxisomal
disorder
,
and
is
caused
by
mutations
in
the
peroxisomal
transmembrane
ALD
protein
(
ALDP
,
ABCD
1
)
.
The
biochemical
defect
associated
with
X-
ALD
is
an
accumulation
of
very
long
-chain
fatty
acids
(
VLCFA
,
e
.
g
.
C
2
4
:
0
and
C
2
6
:
0
)
,
which
has
been
shown
to
result
in
the
accumulation
of
C
2
6
:
0
-
lysophosphatidylcholine
(
C
2
6
:
0
-
LPC
)
.
We
describe
the
analysis
of
C
2
6
:
0
-
LPC
in
dried-
blood
spots
(
DBS
)
using
a
rapid
(
30
min
)
and
simple
extraction
procedure
,
isocratic
HPLC
resolution
of
LPC
,
and
structure-
specific
analysis
via
negative
ion
mode
tandem
mass
spectrometry
.
In
putative
normal
DBS
specimens
from
newborns
(
N
=
223
)
C
2
6
:
0
-
LPC
was
0
.
09
±
0
.
03
μmol
/
l
whole
blood
,
while
in
peroxisomal
biogenesis
disorder
(
including
X-
ALD
)
patients
(
N
=
28
)
C
2
6
:
0
-
LPC
was
1
.
13
±
0
.
67
μmol
/
l
whole
blood
.
Both
multiple
reaction
monitoring
and
a
neutral
loss
scan
(
225
.
1
Da
)
analysis
of
DBS
were
used
to
analyze
LPC
.
Compared
to
a
previous
report
of
C
2
6
:
0
-
LPC
analysis
in
DBS
,
the
method
described
here
is
simpler
,
faster
,
and
more
structure-
specific
for
LPC
with
C
2
6
:
0
acyl
chains
.
Diseases
Validation
Diseases presenting
"a neutral loss scan"
symptom
x-linked adrenoleukodystrophy
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