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Early dietary treated patients with phenylketonuria can achieve normal growth and body composition.
[classical phenylketonuria]
In
the
past
,
overtreatment
may
have
resulted
in
growth
impairment
in
patients
with
phenylketonuria
.
The
paper
aims
to
investigate
height
and
body
composition
in
early
treated
patients
with
phenylketonuria
who
were
diagnosed
between
1981
and
2008
.
A
cross-sectional
study
of
89
patients
with
phenylketonuria
and
78
controls
aged
(
mean
±
SD
,
in
years
)
14
.
4
±
6
.
6
and
15
.
9
±
7
.
1
,
respectively
,
was
undertaken
,
including
anthropometric
and
body
composition
evaluation
using
bioelectrical
impedance
.
Median
Phe
concentrations
in
the
last
year
before
study
enrollment
were
used
as
a
measure
of
metabolic
control
.
Natural
protein
and
amino
acid
mixture
intakes
were
recorded
in
patients
.
No
statistically
significant
differences
were
found
on
height
z-scores
between
patients
and
controls
aged
less
than
19
years
(
p
=
0
.
301
)
,
although
all
patients
with
classical
phenylketonuria
revealed
negative
height
z-scores
,
resulting
in
a
mean
±
SD
of
-
0
.
65
±
0
.
41
.
Among
participants
aged
19
years
or
more
,
median
(
p
25
-
p
75
)
of
height
was
significantly
higher
in
controls
[
168
.
0
cm
(
159
.
2
-
174
.
8
)
]
than
in
patients
[
160
.
5
cm
(
151
.
9
-
167
.
5
)
]
(
p
=
0
.
017
)
.
No
significant
differences
were
found
between
patients
and
controls
regarding
fat
mass
,
fat
free
mass
,
muscular
mass
,
body
cell
mass
index
and
phase
angle
.
Our
results
suggest
that
early
and
continuously
treated
patients
with
phenylketonuria
born
after
1992
can
achieve
normal
growth
and
body
composition
,
although
the
negative
height
z-score
in
patients
with
classical
phenylketonuria
strengthens
the
continuous
need
to
optimize
the
quality
of
their
protein
intake
.
Diseases
Validation
Diseases presenting
"statistically significant differences"
symptom
aniridia
classical phenylketonuria
dentinogenesis imperfecta
esophageal carcinoma
esophageal squamous cell carcinoma
familial mediterranean fever
liposarcoma
oculocutaneous albinism
oral submucous fibrosis
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