Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Filter paper saturated by urine sample in metabolic disorders detection by proton magnetic resonance spectroscopy.
[cystinuria]
NMR
spectroscopy
of
urine
samples
is
able
to
diagnose
many
inborn
errors
of
metabolism
(
IEM
)
.
However
,
urinary
metabolites
have
a
poor
stability
,
requiring
special
care
for
routine
analysis
(
storage
of
urine
at
-
20
or
-
80
degrees
C
,
fast
transport
)
.
The
aim
of
our
study
was
to
investigate
the
reliability
of
dried
urine
filter
paper
for
urine
storage
and
transport
and
to
evaluate
the
ability
of
NMR
to
detect
several
IEM
using
this
method
.
Urine
samples
from
five
healthy
subjects
were
analyzed
by
(
1
)
H
NMR
following
different
storage
conditions
(
-
20
vs
4
degrees
C
vs
dried
on
filter
paper
)
and
at
different
time
points
(
24
h
,
48
h
,
96
h
,
and
7
days
)
.
Urine
pattern
of
fresh
urine
was
considered
as
a
reference
.
We
analyzed
the
conservation
of
some
amino
acids
and
organic
acids
using
Bland
and
Altman
plot
with
intraclass
correlation
coefficient
determination
.
Then
,
we
evaluated
the
use
of
filter
paper
to
detect
four
different
IEM
(
methylmalonic
and
isovaleric
acidurias
,
ornithine
transcarbamylase
deficiency
,
and
cystinuria
)
.
Analysis
of
urine
samples
from
healthy
subjects
revealed
a
high
stability
of
studied
molecules
(
ICC
>
0
.
8
)
even
after
7
days
of
storage
on
filter
paper
.
Moreover
,
an
excellent
preservation
of
metabolites
specifically
accumulated
in
IEM
was
observed
when
analysis
of
dried
urine
filter
paper
was
compared
to
fresh
urine
(
coefficient
of
variation
<
15
%
)
.
This
preliminary
study
demonstrates
that
storage
of
dried
urine
on
filter
paper
is
reliable
for
(
1
)
H
NMR
spectroscopy
analysis
.
Preservation
of
urine
molecules
over
time
using
that
method
is
convenient
for
routine
clinical
practice
.
Diseases
Validation
Diseases presenting
"ornithine transcarbamylase deficiency"
symptom
cystinuria
homocystinuria without methylmalonic aciduria
pyruvate dehydrogenase deficiency
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom