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Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.
[zellweger syndrome]
Patients
with
peroxisomal
biogenesis
disorders
(
PBDs
)
have
an
abnormal
profile
of
circulating
acylcarnitines
(
i
.
e
.
elevated
C
16
:
0
-
DC
-
,
C
18
:
0
-
DC
-
,
C
2
4
:
0
-
,
C
2
6
:
0
-
carnitine
)
.
We
developed
an
ESI
-
MS
/
MS
method
for
quantification
of
urine
acylcarnitines
and
tested
its
reliability
for
the
diagnosis
of
PBDs
.
U
rine
from
7
patients
with
PBDs
(
5
Zellweger
syndrome
,
2
infantile
Refsum
disease
)
,
from
2
patients
with
D-
bifunctional
protein
(
D-
BP
)
deficiency
,
and
from
130
healthy
controls
were
analysed
by
ESI
-
MS
/
MS
,
using
a
multiple
reactions
monitoring
(
MRM
)
method
,
and
quantified
with
labelled
internal
standards
.
Acylcarnitine
levels
between
groups
were
analyzed
by
the
STATA
statistics
data
analysis
and
compared
by
the
non
parametric
Mann-
Whitney
test
.
In
PBDs
,
the
urinary
excretion
of
long
-chain
dicarboxylylcarnitines
(
C
14
:
0
-
DC
-
,
C
16
:
0
-
DC
-
,
and
C
18
:
0
-
DC
-carnitine
)
,
and
of
very
long
-chain
monocarboxylylcarnitines
(
C
2
2
:
0
-
,
C
2
4
:
0
-
,
C
2
6
:
0
-
carnitine
)
were
significantly
elevated
compared
to
controls
(
p
<
0
.
0001
)
.
Interestingly
,
among
PBDs
the
most
severe
abnormalities
of
acylcarnitine
profile
were
observed
in
patients
with
Zellweger
syndrome
.
One
patient
with
D-
BP
showed
similar
abnormalities
to
PBDs
,
while
in
the
other
only
C
16
:
0
-
DC
-carnitine
was
markedly
elevated
.
This
study
shows
that
MRM
ESI
-
MS
/
MS
acylcarnitine
analysis
unequivocally
discriminates
patients
with
PBDs
and
D-
BP
deficiency
from
controls
,
representing
a
reliable
and
sensitive
method
for
the
diagnosis
that
requires
a
short
-time
analysis
with
high
sample
through-put
.
Diseases
Validation
Diseases presenting
"urinary excretion"
symptom
adrenal incidentaloma
alexander disease
benign recurrent intrahepatic cholestasis
cystinuria
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
primary hyperoxaluria type 1
zellweger syndrome
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