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Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome.
[classical phenylketonuria]
The
intellectual
,
neurological
,
and
neuropsychological
outcome
of
patients
with
non-phenylketonuric-hyperphenylalaninaemia
(
PKU
-HPA
)
(
serum
phenylalanine
levels
under
free
diet
<
600
mumol
/
l
)
has
not
been
systematically
studied
so
far
.
We
therefore
tested
28
patients
(
mean
age
=
21
.
8
,
SD
=
4
.
2
years
)
for
IQ
(
WAIS-R
/
WISC-R
)
,
school
performance
,
job
career
,
clinical
neurological
examination
,
fine
motor
performance
(
motor
performance
task
)
,
and
selective
and
sustained
attention
(
stroop
task
,
Dot
Pattern
Exercise
from
the
Sonneville
visual
attention
task
)
.
In
addition
,
cranial
MRI
(
1
.
5
T
unit
)
was
obtained
in
10
of
these
patients
.
Clinical-neurological
examination
revealed
no
significant
abnormalities
in
the
non-
PKU
-HPA
patients
.
They
also
had
a
normal
IQ
(
mean
=
101
.
9
,
SD
=
13
.
6
)
.
Compared
to
their
healthy
siblings
,
they
attended
a
normal
school
and
had
a
normal
job
career
.
The
motor
performance
task
revealed
no
deficits
in
fine
motor
abilities
.
The
patients
performed
normally
in
the
stroop
task
and
the
dot
pattern
exercise
.
Their
MRIs
were
normal
.
Our
results
indicate
that
patients
with
non-
PKU
-HPA
are
not
at
risk
for
developing
intellectual
,
neurological
,
and
neuropsychological
impairment
,
as
described
for
patients
with
treated
mild
or
classical
phenylketonuria
.
From
this
point
of
view
a
dietary
treatment
is
not
necessary
in
patients
with
hyperphenylalaninaemia
.
Diseases
Validation
Diseases presenting
"clinical neurological examination"
symptom
classical phenylketonuria
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