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Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia.
[phenylketonuria]
There
is
evidence
in
support
of
low
bone
density
in
young
patients
with
disorders
of
phenylalanine
metabolism
;
however
,
little
is
known
about
muscle
and
fat
mass
in
these
patients
,
especially
in
those
with
mild
hyperphenylalaninemia
(
mHPA
)
.
We
aimed
to
evaluate
body
composition
of
children
and
adolescents
with
early
-diagnosed
disorders
of
phenylalanine
metabolism
.
The
study
was
conducted
in
the
Institute
of
Child
Health
,
which
is
the
national
center
that
performs
newborn
screening
.
Bone
,
muscle
,
and
fat
mass
of
48
patients
with
phenylketonuria
(
PKU
)
and
32
patients
with
mild
mHPA
,
aged
five
to
18
years
,
were
compared
to
57
age-
and
sex-matched
controls
.
Dual
energy
X-
ray
absorptiometry
was
used
for
this
purpose
.
Compared
to
controls
,
bone
mineral
density
(
BMD
)
was
lower
in
patients
with
PKU
(
mean
total
body
BMD
z
score
,
0
.
11
;
P
=
0
.
03
)
and
in
those
with
mild
mHPA
(
mean
lumbar
BMD
z
score
,
-
0
.
34
;
P
=
0
.
01
)
.
Lean
body
mass
and
fat
mass
were
not
significantly
affected
in
the
study
group
.
Comparison
between
the
two
patients
groups
did
not
reveal
any
difference
in
body
composition
profiles
;
however
,
pubertal
status
appeared
important
for
within-group
comparisons
.
Fat
mass
was
significantly
increased
in
teenagers
with
PKU
,
which
was
more
evident
in
those
with
poor
dietary
compliance
irrespective
of
gender
(
fat
mass
z
score
,
0
.
66
;
P
=
0
.
018
)
.
Finally
,
positive
correlations
were
found
not
only
between
bone
,
muscle
,
and
fat
mass
in
both
groups
,
but
also
between
fat
mass
and
Phenylalanine
levels
in
patients
with
PKU
(
r
,
0
.
46
;
P
=
0
.
001
)
.
Bone
mineral
density
appears
suboptimal
in
young
patients
with
disorders
of
phenylalanine
metabolism
.
Adolescents
seemed
more
prone
to
obesity
,
especially
when
their
dietary
adherence
was
poor
,
whereas
muscle
mass
was
not
considerably
affected
.
To
ensure
healthier
bones
and
less
fat
content
,
close
follow-up
as
well
as
proper
lifestyle
advice
is
needed
.
Diseases
Validation
Diseases presenting
"obesity"
symptom
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
carcinoma of the gallbladder
cohen syndrome
congenital adrenal hyperplasia
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
heparin-induced thrombocytopenia
kabuki syndrome
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
sneddon syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated