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Our Project
Our Team
A systematic review of bone mineral density and fractures in phenylketonuria.
[phenylketonuria]
Our
objective
was
to
systematically
review
and
analyze
published
data
on
bone
mineral
density
(
BMD
)
and
fracture
rates
in
patients
with
phenylketonuria
(
PKU
)
,
and
relationships
between
BMD
and
phenylalanine
levels
.
We
searched
PubMed
,
CINAHL
,
and
Cochrane
databases
from
January
1966
to
November
2013
for
studies
of
spine
BMD
or
fracture
in
PKU
and
control
subjects
.
We
excluded
studies
assessing
skeletal
health
by
ultrasound
or
peripheral
quantitative
computer
tomography
.
Both
authors
reviewed
abstracts
for
inclusion
,
and
read
full
text
papers
to
extract
data
.
Sixteen
studies
met
eligibility
criteria
.
Meta
-analysis
of
three
studies
found
that
spine
BMD
was
0
.
100
g
/
cm
(
2
)
lower
(
95
%
CI
,
-
0
.
110
,
-
0
.
090
g
/
cm
(
2
)
)
in
67
subjects
with
PKU
,
compared
to
161
controls
.
Among
six
studies
,
20
%
(
53
of
263
)
of
PKU
subjects
experienced
clinical
fractures
.
In
the
single
study
with
controls
,
the
fracture
rate
was
2
.
6
fold
higher
(
95
%
CI
,
1
.
1
-
6
.
1
)
after
age
8
in
PKU
subjects
,
compared
to
healthy
sibling
controls
.
When
considering
a
total
of
12
studies
in
412
subjects
,
nine
or
75
%
of
studies
representing
71
%
of
studied
subjects
reported
no
association
between
phenylalanine
levels
and
BMD
.
Spine
BMD
is
lower
in
PKU
than
control
subjects
,
but
only
one
study
controlled
for
smaller
body
size
.
Existing
studies
suggest
a
clinical
fracture
rate
of
20
%
among
PKU
subjects
,
but
fracture
rates
in
controls
are
lacking
.
Finally
,
existing
data
shows
no
consistent
relationship
between
phenylalanine
levels
and
BMD
.
Future
studies
are
needed
to
clarify
the
etiology
and
health
consequences
of
low
BMD
in
PKU
.
Diseases
Validation
Diseases presenting
"skeletal health"
symptom
aromatase deficiency
phenylketonuria
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