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Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.
[classical phenylketonuria]
Recent
studies
have
shown
that
a
subgroup
of
phenylketonuric
patients
respond
to
high
doses
of
BH
4
(
20
mg
/
kg
)
by
a
decrease
of
plasma
phenylalanine
.
A
clinically
significant
response
has
been
defined
as
a
decrease
in
phenylalanine
by
more
than
30
%
within
24
h
,
after
a
BH
4
challenge
.
We
report
our
experience
with
37
patients
diagnosed
with
hyperphenylalaninemia
,
mild
,
moderate
,
or
classical
Phenylketonuria
(
PKU
)
using
a
seven
day
combined
BH
4
and
phenylalanine
load
.
Nine
of
the
37
patients
responded
with
a
30
%
decrease
in
their
phenylalanine
levels
in
the
first
8
h
of
treatment
.
A
total
of
17
patients
(
46
%
)
had
a
decrease
of
at
least
30
%
during
the
study
period
.
This
study
confirms
that
a
significant
number
of
patients
with
mild
to
moderate
PKU
will
respond
to
a
BH
4
load
.
Furthermore
,
it
confirms
that
the
seven
-
day
phenylalanine
test
is
more
sensitive
in
detecting
BH
4
responsive
patients
.