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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated