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Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia.
[phenylketonuria]
Hyperphenylalaninemia
(
HPA
)
refers
to
all
clinical
conditions
characterized
by
increased
amounts
of
phenylalanine
(
PHE
)
in
blood
and
other
tissues
.
According
to
their
blood
PHE
concentrations
under
a
free
diet
,
hyperphenylalaninemic
patients
are
commonly
classified
into
phenotypic
subtypes
:
classical
phenylketonuria
(
PKU
)
(
PHE
>
1200
µM
/
L
)
,
mild
PKU
(
PHE
600
-
1200
µM
/
L
)
and
persistent
HPA
(
PHE
120
-
600
µM
/
L
)
(
normal
blood
PHE
<
120
µM
/
L
)
.
The
current
treatment
for
hyperphenylalaninemic
patients
is
aimed
to
keep
blood
PHE
levels
within
the
safe
range
of
120
-
360
µM
/
L
through
a
PHE-
restricted
diet
,
difficult
to
achieve
.
If
untreated
,
classical
PKU
presents
variable
neurological
and
mental
impairment
.
However
,
even
mildly
elevated
blood
PHE
levels
,
due
to
a
bad
compliance
to
dietary
treatment
,
produce
cognitive
deficits
involving
the
prefrontal
cortical
areas
,
extremely
sensible
to
PHE-induced
disturbances
.
The
development
of
animal
models
of
different
degrees
of
HPA
is
a
useful
tool
for
identifying
the
metabolic
mechanisms
underlying
cognitive
deficits
induced
by
PHE
.
In
this
paper
we
analyzed
the
behavioral
and
biochemical
phenotypes
of
different
forms
of
HPA
(
control
,
mild
-
HPA
,
mild
-
PKU
and
classic-
PKU
)
,
developed
on
the
base
of
plasma
PHE
concentrations
.
Our
results
demonstrated
that
mice
with
different
forms
of
HPA
present
different
phenotypes
,
characterized
by
increasing
severity
of
behavioral
symptoms
and
brain
aminergic
deficits
moving
from
mild
HPA
to
classical
PKU
forms
.
In
addition
,
our
data
identify
preFrontal
cortex
and
amygdala
as
the
most
affected
brain
areas
and
confirm
the
highest
susceptibility
of
brain
serotonin
metabolism
to
mildly
elevated
blood
PHE
.
Diseases
Validation
Diseases presenting
"present different phenotypes"
symptom
classical phenylketonuria
phenylketonuria
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