Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Long-term follow up of patients with classical phenylketonuria after diet relaxation at 5 years of age. The Paris Study.
[classical phenylketonuria]
The
age
for
discontinuing
dietary
treatment
of
phenylketonuria
(
PKU
)
has
been
a
worldwide
source
of
controversy
for
many
years
.
It
is
the
reason
we
report
here
the
results
of
a
prospective
,
controlled
study
in
which
the
diet
was
relaxed
at
5
years
of
age
in
31
so
far
well-treated
children
with
classical
PKU
.
The
increase
of
phenylalanine
(
Phe
)
plasma
levels
to
about
1500
mumol
/
l
(
25
mg
/
dl
)
after
relaxing
the
diet
was
not
associated
with
any
significant
decline
of
intellectual
performance
as
measured
by
the
Wechsler
scores
.
Paired
comparisons
at
7
-
8
years
and
11
-
13
years
of
age
(
n
=
12
)
have
shown
WISC
scores
of
102
.
6
+
/
-
16
.
2
and
104
.
8
+
/
-
16
,
respectively
,
which
were
not
significantly
different
.
Similarly
,
paired
comparisons
at
9
-
10
years
and
14
-
16
years
(
n
=
6
)
did
not
demonstrate
a
significant
loss
of
IQ
points
(
107
.
7
+
/
-
13
vs
104
.
8
+
/
-
18
)
.
Of
course
,
it
is
possible
to
argue
that
we
should
have
observed
an
increase
in
IQ
with
increasing
age
in
our
patients
and
that
the
absence
of
deterioration
can
not
be
considered
by
itself
as
a
good
result
.
Nevertheless
,
it
can
not
be
excluded
that
the
subtle
but
global
intellectual
impairments
that
have
been
documented
in
early
-treated
subjects
are
,
to
a
very
substantial
degree
,
determined
in
the
pre-
school
years
,
long
before
there
is
any
question
of
stopping
or
relaxing
the
diet
.