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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
"positive predictive value"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
carcinoma of the gallbladder
cholangiocarcinoma
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
heparin-induced thrombocytopenia
hodgkin lymphoma, classical
phenylketonuria
thoracic outlet syndrome
typhoid
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