Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Newborn screening for lysosomal storage disorders.
[krabbe disease]
Lysosomes
are
intracellular
organelles
containing
acid
hydrolases
that
degrade
biological
macromolecules
.
Lysosomal
storage
disorders
(
LSDs
)
are
caused
by
absent
activity
of
one
or
more
of
these
enzymes
due
to
mutations
of
genes
encoding
lysosomal
hydrolases
or
enzymes
that
process
,
target
,
and
transport
these
enzymes
.
The
specific
signs
and
symptoms
of
each
LSD
derive
from
the
type
of
material
accumulated
within
the
lysosome
,
the
site
(
organ
)
of
accumulation
and
the
response
of
the
body
(
sometimes
in
the
form
of
an
inflammatory
or
immune
response
)
to
the
accumulated
material
.
Interest
for
inclusion
of
these
disorders
in
newborn
screening
programs
derives
from
the
availability
of
effective
therapy
in
the
form
of
enzyme
replacement
or
substrate
reduction
therapy
and
bone
marrow
transplant
that
may
improve
long
-term
outcome
especially
if
started
prior
to
irreversible
organ
damage
.
Based
on
the
availability
of
therapy
and
suitable
screening
methods
,
Gaucher
disease
,
Fabry
disease
,
Pompe
disease
,
mucopolysaccharidosis
I
and
II
,
Niemann-
Pick
disease
,
and
Krabbe
disease
are
candidates
for
newborn
screening
.
Pilot
newborn
screening
projects
have
been
performed
for
some
of
these
conditions
that
indicate
the
feasibility
of
this
approach
.
This
review
will
provide
insight
into
these
screening
strategies
and
discuss
their
advantages
and
limitations
.
©
2011
Wiley
-
Liss
,
Inc
.
Diseases
Validation
Diseases presenting
"specific signs"
symptom
gm1 gangliosidosis
krabbe disease
pyomyositis
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