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[Current therapeutic strategies in lysosomal disorders.]
[fabry disease]
The
lysosomal
storage
disorders
(
LSD
)
comprise
a
heterogeneous
group
of
inborn
errors
of
metabolism
.
The
resulting
enzymatic
defect
leads
to
accumulation
of
its
substrate
in
the
lysosome
.
Their
clinical
patterns
reflect
the
site
of
substrate
storage
.
Central
nervous
system
involvement
is
often
present
in
the
younger
patients
affected
by
the
most
severe
phenotypes
.
Substantial
progress
has
been
made
in
the
pathophysiological
knowledge
,
leading
to
new
therapeutic
options
in
LSD
.
Enzyme
replacement
therapy
(
ERT
)
is
the
dominant
approach
and
is
actually
proposed
in
six
LSD
:
Gaucher
disease
,
Fabry
disease
,
Pompe
disease
and
mucopolysaccharidoisis
(
MPS
)
I
(
Hurler
disease
)
,
II
(
Hunter
disease
)
and
VI
(
Maroteaux-
Lamy
disease
)
.
This
treatment
reduces
lysosomal
storage
,
and
sometimes
reduces
,
but
most
often
limits
the
progression
of
visceral
involvement
and
of
its
clinical
consequences
.
However
,
ERT
does
not
cross
the
blood
-
brain
barrier
and
is
ineffective
on
neurological
symptoms
.
In
the
younger
patients
with
MPS
I
(
Hurler
disease
)
and
with
selected
cases
of
other
LSD
,
haematopoietic
stem
cell
transplantation
remains
the
optimal
option
.
Other
strategies
using
small
molecules
are
being
explored
in
order
to
cross
the
blood
-
brain
barrier
.
This
includes
substrate
reduction
or
depletion
therapies
,
which
decrease
the
amount
of
substrate
,
and
the
use
of
pharmacological
chaperones
,
which
enhance
the
residual
activity
of
the
mutant
enzyme
.
Miglustat
is
the
proposed
substrate
reduction
therapy
in
Niemann-
Pick
C
disease
and
clinical
trials
are
actually
performed
in
several
LSD
using
other
substrate
reduction
or
chaperone
drugs
.
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"is ineffective on neurological symptoms"
symptom
fabry disease
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