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The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran.
[phenylketonuria]
Defects
either
in
phenylalanine
hydroxylase
(
PheOH
)
or
in
the
production
and
recycling
of
its
cofactor
(
tetrahydrobiopterin
[
BH
4
]
)
are
the
causes
of
primary
hyperphenylalaninemia
(
HPA
)
.
The
aim
of
our
study
was
to
investigate
the
current
status
of
different
variants
of
HPA
Kurdish
patients
in
Kermanshah
province
,
Iran
.
F
rom
33
cases
enrolled
in
our
study
,
32
were
identified
as
HPA
patients
.
Reassessing
of
pre-treatment
phenylalanine
concentrations
and
the
analysis
of
urinary
pterins
was
done
by
high
-performance
liquid
chromatography
method
.
A
total
of
30
patients
showed
PAH
deficiency
and
two
patients
were
diagnosed
with
BH
4
deficiency
(
BH
4
/
HPA
ratio
=
6
.
25
%
)
.
Both
of
these
two
BH
4
-
deficient
patients
were
assigned
to
severe
variant
of
dihydropteridine
reductase
(
DHPR
)
deficiency
.
More
than
75
%
of
patients
with
PAH
deficiency
classified
as
classic
phenylketonuria
(
PKU
)
according
their
levels
of
pre-treatment
phenylalanine
concentrations
.
Based
on
the
performed
study
,
we
think
that
the
frequency
of
milder
forms
of
PKU
is
higher
than
those
was
estimated
before
and
/
or
our
findings
here
.
Furthermore
,
the
frequency
of
DHPR
deficiency
seems
to
be
relatively
high
in
our
province
.
Since
the
clinical
symptoms
of
DHPR
deficiency
are
confusingly
similar
to
that
of
classic
PKU
and
its
prognosis
are
much
worse
than
classical
PKU
and
can
not
be
solely
treated
with
the
PKU
regime
,
our
pilot
study
support
that
it
is
crucial
to
set
up
screening
for
BH
4
deficiency
,
along
with
PAH
deficiency
,
among
all
HPA
patients
diagnosed
with
HPA
.
Diseases
Validation
Diseases presenting
"hyperphenylalaninemia"
symptom
classical phenylketonuria
homocystinuria without methylmalonic aciduria
phenylketonuria
This symptom has already been validated
