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[Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics].
[classical phenylketonuria]
Phenylketonuria
is
the
most
common
inborn
error
of
metabolism
.
The
disease
is
caused
by
mutations
of
the
phenylalanine
hydroxylase
gene
,
decreasing
or
completely
abolishing
the
activity
of
the
encoded
enzyme
.
Treatment
consists
in
maintaining
low
blood
phenylalanine
concentration
.
Untreated
patients
develop
mental
retardation
.
Use
of
tetrahydrobiopterin
is
a
new
,
alternative
treatment
method
,
effective
in
some
phenylketonuria
-patients
.
Because
the
dietary
treatment
becomes
less
restrictive
in
such
patients
,
quality
of
life
rises
in
them
substantially
.
Phenylketonuria
-causing
mutations
strictly
determine
susceptibility
to
tetrahydrobiopterin
in
a
given
patient
.
The
aim
of
the
study
was
to
select
candidates
for
tetrahydrobiopterin
treatment
basing
on
analysis
of
detected
mutations
of
the
phenylalanine
hydroxylase
gene
.
Phenylketonuria
-patients
from
Krakow
region
were
genotyped
by
means
of
PCR
,
DHPLC
and
sequencing
.
9
5
%
of
mutations
of
the
phenylalanine
hydroxylase
gene
were
identified
in
a
group
of
238
phenylketonuria
-patients
followed
up
in
Krakow
region
.
A
genotype
excluding
treatment
with
tetrahydrobiopterin
was
find
in
>
53
%
of
patients
.
In
23
%
of
patients
genotypes
were
found
which
were
typical
for
milder
forms
of
the
disease
(
far
less
restrictive
dietary
treatment
needed
in
comparison
with
patients
with
classical
phenylketonuria
)
.
Approximately
half
of
the
remaining
patients
could
probably
benefit
from
use
of
dietary
treatment
with
additional
tetrahydrobiopterin
supplementation
.
