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Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah(enu2) mice.
[phenylketonuria]
Phenylketonuria
(
PKU
)
is
an
autosomal
recessive
genetic
disease
caused
by
defects
in
the
phenylalanine
hydroxylase
gene
.
Preclinical
and
clinical
investigations
suggest
that
phenylalanine
ammonia
lyase
(
PAL
)
could
be
an
effective
alternative
for
the
treatment
of
PKU
.
The
aim
of
this
study
is
to
investigate
if
erythrocytes
loaded
with
PAL
may
act
as
a
safe
delivery
system
able
to
overcome
bioavailability
issues
and
to
provide
,
in
vivo
,
a
therapeutically
relevant
concentration
of
enzyme
.
Murine
erythrocytes
were
loaded
with
recombinant
PAL
from
Anabaena
variabilis
(
rAvPAL
)
and
their
ability
to
perform
as
bioreactors
was
assessed
in
vivo
in
adult
BTBR-Pah
(
enu
2
)
mice
,
the
genetic
murine
model
of
PKU
.
Three
groups
of
mice
were
treated
with
a
single
i
.
v
.
injection
of
rAvPAL-RBCs
at
three
different
doses
to
select
the
most
appropriate
one
for
assessment
of
efficacy
.
Repeated
administrations
at
9
-
10
day
-intervals
of
the
selected
dose
for
10
weeks
showed
that
the
therapeutic
effect
was
persistent
and
not
affected
by
the
generation
of
antibodies
induced
by
the
recombinant
enzyme
.
This
therapeutic
approach
deserves
further
in
vivo
evaluation
either
as
a
potential
option
for
the
treatment
of
PKU
patients
or
as
a
possible
model
for
the
substitutive
enzymatic
treatment
of
other
inherited
metabolic
disorders
.
Diseases
Validation
Diseases presenting
"defects in the phenylalanine hydroxylase gene"
symptom
phenylketonuria
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