Rare Diseases Symptoms Automatic Extraction
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[Present status of expanded newborn screening project for inborn errors of metabolism by tandem mass spectrometry].
[phenylketonuria]
In
Japan
,
screening
for
six
diseases
including
four
inborn
errors
of
metabolism
has
been
performed
since
1977
for
all
neonates
to
prevent
severe
mental
handicaps
or
death
.
A
rapid
screening
procedure
for
analysis
of
several
amino
acids
and
acylcarnitines
in
blood
spots
by
tandem
mass
spectrometry
was
developed
by
Millington
DS
et
al
.
in
the
early
1990
s
.
Although
it
is
called
expanded
(
or
extended
)
newborn
screening
,
the
procedure
is
insufficiently
sensitive
to
or
specific
for
several
diseases
.
Screening
for
all
diseases
that
can
be
screened
using
this
procedure
is
suggested
to
be
cost-ineffective
.
Many
European
countries
target
only
two
diseases
:
medium-chain
acyl-
CoA
dehydrogenase
deficiency
and
phenylketonuria
;
their
prevalence
in
Caucasian
populations
is
very
high
,
but
some
countries
target
more
than
twenty
diseases
and
others
an
intermediate
number
.
A
pilot
study
targeting
22
diseases
suggests
that
the
combined
incidence
is
one
per
9
,
000
(
0
.
01
%
)
in
Japan
.
This
primary
screening
requires
secondary
screening
to
confirm
the
disease
using
urine
,
and
either
organic
acids
with
solvent
extraction
or
metabolome
without
fractionation
are
analyzed
by
gas
chromatography-mass
spectrometry
.
There
is
no
need
for
primary
or
secondary
screening
tests
to
be
performed
at
the
same
laboratory
because
the
skills
required
are
quite
different
.
Understanding
of
the
methodological
problems
of
tandem
mass
screening
and
amelioration
of
variation
and
false
positivity
rate
of
this
screening
method
among
laboratories
are
critical
to
the
success
of
the
screening
system
in
Japan
.
GC
/
MS
-based
urine
metabolomics
is
expected
to
become
one
of
the
primary
screening
methodologies
for
neonates
/
infants
who
are
already
ill
.
Diseases
Validation
Diseases presenting
"acylcarnitines in blood spots by tandem mass spectrometry was developed by millington ds et al"
symptom
phenylketonuria
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