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Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil.
[phenylketonuria]
Phenylketonuria
(
PKU
)
was
the
first
inherited
metabolic
disease
known
to
cause
mental
retardation
for
which
a
newborn
screening
program
(
NBS
)
was
developed
.
The
objective
of
this
study
was
to
evaluate
the
effectiveness
of
PKU
NBS
and
the
management
of
cases
in
the
northeastern
Brazilian
state
of
Sergipe
(
SE
)
.
We
reviewed
the
phenylalanine
concentrations
in
filter-paper
collected
from
the
heel
(
PKUneo
)
of
43
,
449
newborns
;
blood
concentrations
obtained
by
venipuncture
in
the
subjects
with
abnormal
PKUneo
;
the
children
's
age
at
several
phases
of
the
program
,
the
incidence
of
the
disease
from
January
2007
to
June
2008
;
and
metabolic
control
of
the
patients
.
The
coverage
of
NBS
/
SE
was
78
.
93
%
.
The
children
's
age
was
10
±
7
days
at
PKUneo
collection
.
Twelve
children
were
recalled
based
on
the
PKUneo
cutoff
value
at
28
±
13
days
.
From
these
,
the
concentrations
of
phenylalanine
collected
by
venipuncture
were
normal
in
five
children
.
The
incidence
of
hyperphenylalaninemia
was
1
/
43
,
449
,
and
of
PKU
was
1
/
8
,
690
(
5
cases
)
.
One
suspected
subject
died
.
Another
death
occurred
in
the
cohort
,
in
a
confirmed
PKU
case
.
PKU
treatment
began
within
51
±
12
days
of
life
.
In
the
four
patients
under
dietary
phenylalanine
restriction
,
metabolic
control
was
often
difficult
.
PKU
NBS
/
SE
has
satisfactory
coverage
and
adequate
cutoff
for
recalling
patients
and
diagnosis
,
but
the
onset
of
treatment
is
delayed
,
and
follow-up
metabolic
control
is
frequently
inadequate
.
Diseases
Validation
Diseases presenting
"blood concentrations"
symptom
congenital adrenal hyperplasia
dedifferentiated liposarcoma
phenylketonuria
pyruvate dehydrogenase deficiency
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