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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
"mild mhpa"
symptom
phenylketonuria
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