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[Efficacy and safety of a phenylalanine-free amino acid-based enteral formula (AA-PKU2) in 1-8 year-old children with phenylketonuria: a prospective, open, self-controlled and multi-center study in China].
[phenylketonuria]
To
evaluate
the
efficacy
and
safety
of
a
phenylalanine-free
amino
acid-based
enteral
formula
(
AA
-
PKU
2
)
in
the
treatment
of
children
with
phenylketonuria
(
PKU
)
aged
1
-
8
years
.
A
prospective
,
open
,
self-controlled
,
multi-center
trial
was
performed
,
enrolling
121
PKU
children
(
1
-
8
years
in
age
)
consecutively
between
July
,
2009
and
May
,
2011
.
Enteral
nutrition
therapy
was
administered
for
32
weeks
.
The
data
on
blood
phenylalanine
(
PHE
)
levels
,
metal
development
,
weight
,
height
,
head
circumference
,
serum
nutritional
biomarkers
(
total
protein
,
pre-
albumin
,
albumin
,
total
cholesterol
,
total
triglyceride
,
low
-density
lipoprotein
cholesterol
,
high
-density
lipoprotein
cholesterol
)
,
and
measurements
from
routine
blood
and
urine
examinations
and
from
renal
and
hepatic
function
tests
were
collected
before
the
therapy
and
at
8
weeks
and
32
weeks
after
the
therapy
and
were
comparatively
analyzed
.
The
mean
blood
PHE
level
at
8
and
32
weeks
of
AA
-
PKU
2
treatment
was
353
±
253
and
361
±
280
µmol
/
L
respectively
,
significantly
lower
than
that
before
the
treatment
(
487
±
327
µmol
/
L
;
P
<
0
.
01
)
.
The
difference
in
intelligence
quotient
scores
before
and
after
AA
-
PKU
2
treatment
was
not
significant
(
P
>
0
.
05
)
when
assessed
by
the
Gesell
tests
in
children
aged
1
-
4
years
but
significant
(
P
<
0
.
01
)
when
assessed
by
WPPSI
or
WISR-R
tests
in
children
over
4
years
.
The
average
height
,
weight
and
head
circumference
at
8
and
32
weeks
after
treatment
were
significantly
increased
as
compared
to
these
measurements
before
treatment
(
P
<
0
.
01
)
with
absolute
levels
similar
to
those
in
the
control
children
.
In
contrast
,
the
mean
values
of
total
protein
,
pre-
albumin
,
albumin
,
total
cholesterol
,
total
triglyceride
,
low
-density
lipoprotein
cholesterol
and
high
-density
lipoprotein
cholesterol
at
both
time
points
were
not
different
either
from
those
prior
to
the
treatment
or
from
those
in
the
control
children
.
Mild
diarrhea
was
the
adverse
events
associated
with
AA
-
PKU
2
treatment
,
which
occurred
in
3
(
2
.
5
%
)
cases
.
All
these
3
patients
fully
recovered
without
treatment
.
The
phenylalanine-free
amino
acid-based
formula
,
AA
-
PKU
2
,
is
effective
and
safe
in
controlling
blood
PHE
levels
and
improving
mental
development
with
adequate
nutritional
support
in
PKU
.
Diseases
Validation
Diseases presenting
"diarrhea"
symptom
acute rheumatic fever
adrenomyeloneuropathy
benign recurrent intrahepatic cholestasis
cutaneous mastocytosis
esophageal carcinoma
fabry disease
familial mediterranean fever
hirschsprung disease
kabuki syndrome
legionellosis
lymphangioleiomyomatosis
omenn syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
This symptom has already been validated