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Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
[phenylketonuria]
Phenylalanine
hydroxylase
deficiency
,
traditionally
known
as
phenylketonuria
,
results
in
the
accumulation
of
phenylalanine
in
the
blood
of
affected
individuals
and
was
the
first
inborn
error
of
metabolism
to
be
identified
through
population
screening
.
Early
identification
and
treatment
prevent
the
most
dramatic
clinical
sequelae
of
the
disorder
,
but
new
neurodevelopmental
and
psychological
problems
have
emerged
in
individuals
treated
from
birth
.
The
additional
unanticipated
recognition
of
a
toxic
effect
of
elevated
maternal
phenylalanine
on
fetal
development
has
added
to
a
general
call
in
the
field
for
treatment
for
life
.
Two
major
conferences
sponsored
by
the
National
Institutes
of
Health
held
>
10
years
apart
reviewed
the
state
of
knowledge
in
the
field
of
phenylalanine
hydroxylase
deficiency
,
but
there
are
no
generally
accepted
recommendations
for
therapy
.
The
purpose
of
this
guideline
is
to
review
the
strength
of
the
medical
literature
relative
to
the
treatment
of
phenylalanine
hydroxylase
deficiency
and
to
develop
recommendations
for
diagnosis
and
therapy
of
this
disorder
.
Evidence
review
from
the
original
National
Institutes
of
Health
consensus
conference
and
a
recent
update
by
the
Agency
for
Healthcare
Research
and
Quality
was
used
to
address
key
questions
in
the
diagnosis
and
treatment
of
phenylalanine
hydroxylase
deficiency
by
a
working
group
established
by
the
American
College
of
Medical
Genetics
and
Genomics
.
The
group
met
by
phone
and
in
person
over
the
course
of
a
year
to
review
these
reports
,
develop
recommendations
,
and
identify
key
gaps
in
our
knowledge
of
this
disorder
.
Above
all
,
treatment
of
phenylalanine
hydroxylase
deficiency
must
be
life
long
,
with
a
goal
of
maintaining
blood
phenylalanine
in
the
range
of
120
-
360
µmol
/
l
.
Treatment
has
predominantly
been
dietary
manipulation
,
and
use
of
low
protein
and
phenylalanine
medical
foods
is
likely
to
remain
a
major
component
of
therapy
for
the
immediate
future
.
Pharmacotherapy
for
phenylalanine
hydroxylase
deficiency
is
in
early
stages
with
one
approved
medication
(
sapropterin
,
a
derivative
of
the
natural
cofactor
of
phenylalanine
hydroxylase
)
and
others
under
development
.
Eventually
,
treatment
of
phenylalanine
hydroxylase
deficiency
will
be
individualized
with
multiple
medications
and
alternative
medical
foods
available
to
tailor
therapy
.
The
primary
goal
of
therapy
should
be
to
lower
blood
phenylalanine
,
and
any
interventions
,
including
medications
,
or
combination
of
therapies
that
help
to
achieve
that
goal
in
an
individual
,
without
other
negative
consequences
,
should
be
considered
appropriate
therapy
.
Significant
evidence
gaps
remain
in
our
understanding
of
the
optimum
therapies
for
phenylalanine
hydroxylase
deficiency
,
nonphenylalanine
effects
of
these
therapies
,
and
long
-term
sequelae
of
even
well-treated
disease
in
children
and
adults
.
Diseases
Validation
Diseases presenting
"been dietary manipulation, and use"
symptom
phenylketonuria
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