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Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin.
[classical phenylketonuria]
Tetrahydrobiopterin
(
BH
4
)
,
the
natural
cofactor
of
phenylalanine
hydroxylase
(
EC
1
.
14
.
16
.
1
)
,
can
reduce
blood
phenylalanine
(
Phe
)
in
BH
4
sensitive
patients
with
hyperphenylalaninemia
(
McKuisick
261600
)
.
We
report
on
the
long
-term
treatment
of
eight
patients
with
mild
and
classical
phenylketonuria
(
blood
Phe
levels
maximum
blood
Phe
levels
between
771
and
1500
micromol
/
L
)
using
BH
4
at
a
dosage
of
8
-
12
mg
/
kg
BW
per
day
.
In
all
patients
reduction
of
blood
Phe
was
>
30
%
after
BH
4
loading
test
.
Three
patients
were
treated
from
birth
by
BH
4
only
,
five
after
initial
low
Phe
dietary
treatment
.
Seven
of
them
continue
to
be
on
BH
4
treatment
only
,
one
has
a
relaxed
low
protein
diet
.
No
side
effects
could
be
observed
(
longest
observation
time
5
years
)
,
somatic
and
psychomotor
development
were
normal
.
The
main
problem
of
BH
4
treatment
is
finding
an
optimal
dosage
at
different
ages
and
an
under
special
conditions
like
infectious
diseases
.
There
is
evidence
that
in
some
patients
BH
4
treatment
may
allow
a
more
relaxed
low
protein
diet
showing
positive
effects
on
weight
gain
and
quality
of
life
.
Further
controlled
studies
are
necessary
not
only
to
rule
out
any
side
effects
but
also
for
optimizing
treatment
strategies
with
BH
4
treatment
in
mild
phenylketonuria
.
Diseases
Validation
Diseases presenting
"long-term treatment"
symptom
classical phenylketonuria
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
fabry disease
homocystinuria without methylmalonic aciduria
phenylketonuria
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