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Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
[phenylketonuria]
Tetrahydrobiopterin
(
BH
4
)
has
been
recently
approved
as
a
treatment
of
patients
with
phenylketonuria
.
However
,
as
a
confirmation
of
BH
4
-
responsiveness
,
it
might
require
a
very
expensive
trial
treatment
with
BH
4
or
prolonged
BH
4
-
loading
procedures
.
The
selection
of
patients
eligible
for
BH
4
-
therapy
by
means
of
genotyping
of
the
PAH
gene
mutations
may
be
recommended
as
a
complementary
approach
.
A
population-
wide
genotyping
study
was
carried
out
in
1286
Polish
phenyloketonuria-patients
.
The
aim
was
to
estimate
the
BH
4
demand
and
to
cover
prospectively
the
treatment
by
a
National
Health
Fund
.
A
total
of
95
types
of
mutations
were
identified
.
Genetic
variants
corresponding
with
probable
BH
4
-
responsiveness
were
found
in
28
.
2
%
of
cases
.
However
,
patients
with
mild
or
classical
phenylketonuria
who
require
continuous
treatment
accounted
for
11
.
4
%
of
the
studied
population
only
.
Analysis
of
the
published
data
shows
similar
percentage
of
the
"
BH
4
-
responsive
"
variants
of
a
PAH
gene
in
patients
from
other
countries
of
Eastern
Europe
.
Therefore
,
it
can
be
concluded
,
that
the
proportion
of
phenylketonuria
-patients
who
could
benefit
from
the
use
of
BH
4
reaches
approximately
10
%
in
the
entire
region
.
Diseases
Validation
Diseases presenting
"pah gene mutations"
symptom
classical phenylketonuria
phenylketonuria
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