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A random Abstract
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Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism.
[classical phenylketonuria]
The
number
of
diagnosed
inborn
errors
of
metabolism
(
IEM
)
is
growing
constantly
due
to
the
improvement
and
widespread
availability
of
analytical
techniques
.
In
1982
,
a
laboratory
for
the
detection
of
IEM
was
set
up
in
Porto
Alegre
,
Brazil
,
and
became
a
national
reference
centre
for
the
diagnosis
of
these
disorders
.
Ten
thousand
patients
with
signs
and
symptoms
suggestive
of
IEM
were
investigated
in
our
laboratory
from
1982
to
1995
using
specific
protocols
which
included
tests
for
the
detection
of
glucosaminoglycans
(
GAGS
)
,
amino
acids
,
sugars
,
oligosaccharides
,
sialyloligosaccharides
,
organic
acids
,
as
well
as
various
metabolite
.
The
biochemical
investigation
was
completed
in
9
,
901
patients
and
an
IEM
was
detected
in
647
cases
(
6
.
5
%
)
.
Groups
of
IEM
of
higher
incidence
in
our
sample
were
lysosomal
storage
disorders
(
59
.
8
%
)
and
aminoacidopathies
(
21
.
2
%
)
.
The
disorders
most
frequently
diagnosed
were
classical
phenylketonuria
,
GM
1
gangliosidosis
,
mucopolysaccharidosis
type
I
,
mucopolysaccharidosis
type
VI
and
metachromatic
leukodystrophy
.
This
study
shows
that
the
establishment
of
reference
centres
for
the
investigation
of
rare
genetic
diseases
is
a
suitable
approach
to
the
study
of
IEM
in
developing
countries
such
as
Brazil
.
Diseases
Validation
Diseases presenting
"specific protocols"
symptom
classical phenylketonuria
junctional epidermolysis bullosa
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