Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
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
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated