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A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH4).
[phenylketonuria]
A
woman
with
phenylketonuria
(
PKU
)
was
diagnosed
through
neonatal
screening
,
her
PAH
mutation
was
p
.
V
388
M
/
p
.
I
65
T
,
for
which
she
received
treatment
with
phenylalanine
restriction
,
and
was
administered
oral
sapropterin
dihydrochloride
(
6
R-BH
(
4
)
)
from
the
age
of
thirty
.
The
purpose
of
this
article
is
to
describe
the
treatment
with
BH
4
during
her
pregnancy
and
to
evaluate
a
plan
for
its
use
.
The
patient
had
an
unplanned
pregnancy
at
34
years
of
age
,
for
which
she
received
a
phenylalanine-free
supplement
enriched
with
essential
fatty
acids
,
vitamins
and
trace
elements
.
The
dose
of
6
R-BH
(
4
)
was
reduced
from
500
 
mg
/
day
to
100
 
mg
/
day
until
its
suspension
in
the
28
th
week
of
gestation
,
and
was
well
tolerated
.
Blood
phenylalanine
control
was
easily
accomplished
during
this
pregnancy
,
and
no
nutritional
deficiency
was
seen
.
The
pregnancy
had
a
normal
outcome
,
and
so
we
consider
that
adaptation
of
the
dose
of
6
R-BH
(
4
)
to
the
prenatal
periods
aided
a
greater
efficiency
and
a
lower
risk
in
the
treatment
of
maternal
PKU
.
Diseases
Validation
Diseases presenting
"her pah mutation was p"
symptom
phenylketonuria
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