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Phenylketonuria is not a risk factor for gut mucosa inflammation: a preliminary observation.
[phenylketonuria]
Phenylketonuria
(
PKU
)
is
an
inborn
error
of
amino
acid
metabolism
in
which
high
phenylalanine
(
Phe
)
concentrations
in
the
central
nervous
system
adversely
affect
its
development
and
functioning
.
In
PKU
high
oxidative
stress
and
inefficiency
of
free
radical
scavenging
may
lead
to
systemic
chronic
inflammation
.
We
hypothesised
that
in
PKU
gut
mucosa
is
chronically
inflamed
and
that
this
leads
to
release
of
calprotectin
from
neutrophils
and
monocytes
.
The
aim
of
this
study
was
to
compare
intestinal
mucosa
inflammation
status
,
as
measured
using
fecal
calprotectin
,
in
patients
with
PKU
irrespective
of
compliance
,
and
healthy
controls
.
Forty
-
four
patients
with
classical
PKU
were
included
in
the
study
(
21
male
,
23
female
;
aged
0
-
41
years
;
mean
±
SEM
:
16
.
5
±
1
.
7
years
)
.
Forty
-
eight
healthy
subjects
(
HS
)
aged
9
-
68
years
(
29
.
4
±
2
.
6
years
)
comprised
the
control
group
,
of
whom
21
were
male
and
27
female
.
Among
PKU
patients
25
had
normal
Phe
blood
concentrations
and
in
19
they
were
elevated
.
In
all
subjects
calprotectin
stool
concentrations
were
assessed
(
PhiCal
ELISA
,
Calpro
,
Lysaker
,
Norway
)
.
Normal
FC
(
fecal
calprotectin
)
concentrations
were
found
in
43
(
97
.
7
%
)
PKU
patients
and
46
(
95
.
8
%
)
HS
.
No
correlation
between
dietary
control
of
Phe
blood
concentrations
and
FC
levels
in
PKU
patients
was
found
.
No
detectable
intestinal
inflammation
occurs
in
phenylketonuria
.
Lack
of
dietary
control
and
elevated
Phe
levels
do
not
seem
to
be
risk
factors
for
inflammation
of
the
mucosa
of
the
gut
.
