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NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates.
[phenylketonuria]
Approximately
1
in
400
neonates
in
Turkey
is
affected
by
inherited
metabolic
diseases
.
This
high
prevalence
is
at
least
in
part
due
to
consanguineous
marriages
.
Standard
screening
in
Turkey
now
covers
only
three
metabolic
diseases
(
phenylketonuria
,
congenital
hypothyroidism
,
and
biotinidase
deficiency
)
.
Once
symptoms
have
developed
,
tandem-
MS
can
be
used
,
although
this
currently
covers
only
up
to
40
metabolites
.
NMR
potentially
offers
a
rapid
and
versatile
alternative
.
We
conducted
a
multi-center
clinical
study
in
14
clinical
centers
in
Turkey
.
Urine
samples
from
989
neonates
were
collected
and
investigated
by
using
NMR
spectroscopy
in
two
different
laboratories
.
The
primary
objective
of
the
present
study
was
to
explore
the
range
of
variation
of
concentration
and
chemical
shifts
of
specific
metabolites
without
clinically
relevant
findings
that
can
be
detected
in
the
urine
of
Turkish
neonates
.
The
secondary
objective
was
the
integration
of
the
results
from
a
healthy
reference
population
of
neonates
into
an
NMR
database
,
for
routine
and
completely
automatic
screening
of
congenital
metabolic
diseases
.
Both
targeted
and
untargeted
analyses
were
performed
on
the
data
.
Targeted
analysis
was
aimed
at
65
metabolites
.
Limits
of
detection
and
quantitation
were
determined
by
generating
urine
spectra
,
in
which
known
concentrations
of
the
analytes
were
added
electronically
as
well
as
by
real
spiking
.
Untargeted
analysis
involved
analysis
of
the
whole
spectrum
for
abnormal
features
,
using
statistical
procedures
,
including
principal
component
analysis
.
Outliers
were
eliminated
by
model
building
.
Untargeted
analysis
was
used
to
detect
known
and
unknown
compounds
and
jaundice
,
proteinuria
,
and
acidemia
.
The
results
will
be
used
to
establish
a
database
to
detect
pathological
concentration
ranges
and
for
routine
screening
.
Diseases
Validation
Diseases presenting
"known concentrations of the analytes"
symptom
phenylketonuria
You can validate or delete this automatically detected symptom
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