Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[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
.
Diseases
Validation
Diseases presenting
"decreasing or completely abolishing the activity of the encoded enzyme"
symptom
classical phenylketonuria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom