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[What disorders suspect following an increase of phenylalanine on newborn screening?].
[phenylketonuria]
Screening
for
PKU
,
in
France
,
is
made
on
the
3rd
day
of
life
by
measuring
the
concentration
of
phenylalanine
in
dried
blood
spot
samples
.
In
this
study
,
the
goal
was
to
examine
the
final
diagnosis
of
patients
who
showed
a
hyperphenylalaninemia
during
newborn
screening
laboratory
.
Over
a
period
of
11
years
from
1
February
2002
to
31
January
2013
,
all
newborns
with
a
phenylalanine
concentration
increase
(
>
180
μmol
/
L
)
have
been
identified
and
the
cause
of
this
increase
was
noted
.
Of
the
165
,
113
newborns
screened
,
hyperphenylalaninemia
was
identified
in
90
patients
during
the
newborn
screening
laboratory
.
During
this
period
35
%
of
cases
were
due
to
classical
phenylketonuria
or
hyperphenylalaninemia
.
In
4
.
4
%
of
cases
,
increase
concentrations
were
due
to
other
diseases
(
biopterine
deficiency
,
galactosemia
,
MSUD
)
.
However
,
48
.
9
%
of
high
concentrations
have
not
been
confirmed
by
a
second
sample
and
11
%
were
children
who
died
rapidely
during
their
first
days
of
life
.
The
positive
predictive
value
(
PPV
)
of
the
test
with
a
threshold
of
positivity
>
180
μmol
/
L
was
40
%
.
Our
study
showed
that
the
positivity
threshold
of
180
μmol
/
L
proposed
by
the
Association
française
pour
le
dépistage
et
la
prévention
des
handicaps
de
l
'
enfant
(
AFDPHE
)
provides
a
comprehensive
detection
of
all
phenylketonuria
cases
as
well
as
mild
hyperphenylalaninemia
permanent
and
transient
cases
.
Eventhough
the
use
of
a
higher
threshold
would
have
the
advantage
of
increasing
the
PPV
of
the
test
,
none
the
less
we
would
have
missed
out
on
some
cases
to
follow
.
Diseases
Validation
Diseases presenting
"hyperphenylalaninemia"
symptom
classical phenylketonuria
homocystinuria without methylmalonic aciduria
phenylketonuria
This symptom has already been validated