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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
"bone mineral density"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
dentinogenesis imperfecta
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
kallmann syndrome
lamellar ichthyosis
phenylketonuria
primary hyperoxaluria type 1
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