Rare Diseases Symptoms Automatic Extraction
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[Utility of bone turnover markers in metabolic bone disease detection in patients with phenylketonuria.]
[phenylketonuria]
Mineral
bone
disease
is
more
common
in
phenylketonuric
patients
.
The
objectives
of
this
study
were
to
determine
the
usefulness
of
biochemical
bone
markers
to
identify
phenylketonuric
patients
with
mineral
bone
disease
(
MBD
)
and
know
the
underlying
bone
remodeling
alterations
.
Cross-sectional
study
of
43
phenylketonuric
patients
>
7
years
(
range
:
7
.
1
-
41
years
)
.
A
nutritional
survey
was
performed
and
bone
alkaline
phosphatase
(
BAP
)
,
procollagen
type
1
N-
terminal
propeptide
(
PNP
-
1
)
,
beta
-crosslaps
and
ratio
calcium
/
creatinine
in
urine
were
determined
.
A
percentage
of
20
.
9
of
patients
had
pathological
biochemical
bone
markers
,
90
%
of
them
being
adults
.
BAP
was
decreased
in
70
%
of
them
and
beta
-crosslaps
in
42
.
8
%
.
BAP
values
were
more
often
pathological
in
phenylketonuric
patients
with
a
late
diagnosis
(
41
.
7
vs
.
10
.
7
%
;
P
<
.
05
)
and
in
patients
with
MBD
(
60
vs
.
14
.
3
%
;
P
<
.
05
)
.
PNP
-
1
values
and
calcium
/
creatinine
were
similar
among
all
phenylketonuric
patients
regardless
of
presenting
MBD
,
late
diagnosis
or
tetrahydrobipterin
treatment
(
enzyme
cofactor
)
.
Patients
with
decreased
BAP
and
beta
-crosslaps
had
lower
natural
protein
intake
:
BAP
(
0
.
21
±
0
.
13
vs
.
0
.
65
±
0
.
65
g
/
kg
;
P
<
.
05
)
;
beta
-crosslaps
(
0
.
29
±
0
.
23
vs
.
0
.
65
±
0
.
66
g
/
kg
;
P
<
.
05
)
.
None
of
the
tetrahydrobiopterin
treated
patients
showed
altered
values
of
BAP
,
PNP
-
1
or
calcium
/
creatinine
.
Adult
phenylketonuric
patients
with
lower
natural
protein
intake
tend
to
have
lower
values
of
BAP
,
which
is
a
marker
that
may
be
useful
to
identify
patients
at
risk
for
MBD
.
