Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
[classical phenylketonuria]
We
are
reporting
a
retrospective
review
of
blood
phenylalanine
(
Phe
)
concentrations
in
33
patients
with
classical
phenylketonuria
(
PKU
)
born
between
1991
and
2009
and
continuously
followed
up
in
our
clinic
in
2009
.
As
an
indicator
of
blood
Phe
control
,
we
analysed
the
percentage
of
blood
Phe
concentrations
within
and
outside
of
the
treatment
range
for
each
individual
for
treatment
periods
between
1
month
and
12
months
,
1
to
6
years
,
and
6
to
12
years
of
age
.
Despite
early
diagnosis
and
medical
management
in
a
centralized
care
model
,
only
approximately
40
%
of
patients
had
60
%
and
more
of
their
blood
Phe
concentrations
within
the
treatment
range
during
their
lifetime
treatment
periods
.
There
was
no
statistical
difference
for
the
percentage
of
blood
Phe
concentrations
within
the
treatment
range
,
the
mean
Phe
concentrations
or
the
SD
between
the
various
treatment
periods
.
We
found
a
correlation
between
Phe
tolerance
and
percentage
of
blood
Phe
concentrations
within
the
treatment
range
.
Patients
born
between
1991
and
1999
had
poorer
control
than
those
born
later
.
A
frequent
quality
assurance
audit
is
recommended
to
assess
treatment
outcomes
in
clinics
providing
care
to
children
with
PKU
.
