Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Enhanced brain distribution of modified aspartoacylase.
[canavan disease]
Canavan
disease
is
a
fatal
neurological
disorder
caused
by
defects
in
the
gene
that
produces
the
enzyme
aspartoacylase
.
Enzyme
replacement
therapy
can
potentially
be
used
to
overcome
these
defects
if
a
stable
enzyme
form
that
can
gain
access
to
the
appropriate
neural
cells
can
be
produced
.
Achieving
the
proper
cellular
targeting
requires
a
modified
form
of
aspartoacylase
that
can
traverse
the
blood
-
brain
barrier
.
A
PEGylated
form
of
aspartoacylase
that
shows
dramatic
enhancement
in
brain
tissue
access
and
distribution
has
been
produced
.
While
the
mechanism
of
transport
has
not
yet
been
established
,
this
modified
enzyme
is
significantly
less
immunogenic
than
unmodified
aspartoacylase
.
These
improved
properties
set
the
stage
for
more
extensive
enzyme
replacement
trials
as
a
possible
treatment
strategy
.
Diseases
Validation
Diseases presenting
"defects in the gene that produces the enzyme aspartoacylase"
symptom
canavan disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom