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Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies.
[classical phenylketonuria]
An
increased
susceptibility
to
infections
has
been
observed
in
some
patients
with
phenylketonuria
(
PKU
)
,
which
is
not
well
known
whether
it
is
due
to
alterations
of
plasma
essential
amino
acid
concentrations
or
to
some
other
factors
.
This
study
is
designed
to
establish
B
cell
and
T
cell
functions
in
44
children
with
classical
PKU
and
tetrahydrobiopterin
(
BH
4
)
deficiencies
and
the
effects
of
too
high
plasma
phenylalanine
(
PA
)
concentrations
(
16
.
53
to
30
.
54
mg
/
dL
)
on
the
same
parameters
.
B
and
T
cell
functions
of
33
children
with
classical
PKU
(
divided
into
two
groups
based
on
fasting
mean
plasma
PA
concentrations
:
Group
-
I
=
20
.
9
+
/
-
3
.
7
mg
/
dL
,
Group
-
II
=
3
.
8
+
/
-
1
.
02
mg
/
dL
)
,
and
11
children
with
BH
4
deficiencies
(
Group
III
)
were
studied
.
The
results
were
compared
between
the
groups
and
referenced
with
previously
reported
values
from
healthy
controls
.
Delayed
type
skin
hypersensitivity
responses
to
purified
protein
derivative
(
PPD
)
in
Group
I
and
phytohaemagglutinin
(
PHA
)
in
Group
I
,
III
were
lower
than
the
other
groups
and
healthy
controls
.
Plasma
IgG
and
IgM
concentrations
of
Group
I
was
lower
than
the
reference
values
.
Although
mean
serum
zinc
and
iron
levels
of
all
patients
were
lower
than
published
values
of
healthy
children
,
zinc
and
iron
deficiencies
in
Group
I
,
III
were
much
more
prominent
as
compared
to
Group
II
.
The
somewhat
low
plasma
IgG
concentrations
in
Group
I
may
be
related
to
the
very
high
plasma
PA
levels
,
however
the
role
of
zinc
deficiency
as
a
causal
factor
can
not
be
ruled
out
.
BH
4
metabolism
defects
do
not
appear
to
affect
the
same
parameters
.
Impaired
delayed
skin
hypersensitivity
responses
in
Group
I
and
III
can
be
explained
by
severe
serum
zinc
deficiency
.
In
the
light
of
this
study
,
we
conclude
that
in
order
to
establish
a
causal
relationship
between
PKU
and
immune
functions
,
further
studies
need
to
be
conducted
after
the
correction
of
micro-nutrient
status
of
such
children
.
Diseases
Validation
Diseases presenting
"alterations of plasma essential amino acid concentrations or to some other factors"
symptom
classical phenylketonuria
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