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Gene therapy for phenylketonuria.
[classical phenylketonuria]
Classical
phenylketonuria
(
PKU
)
is
an
autosomal
recessive
disorder
caused
by
a
deficiency
of
hepatic
phenylalanine
hydroxylase
(
PAH
)
.
Limitations
of
the
current
dietary
treatment
for
PKU
have
led
to
the
development
of
potential
treatments
based
on
somatic
gene
transfer
.
Three
different
vector
systems
have
been
examined
.
Vectors
derived
from
a
recombinant
retrovirus
or
a
DNA
/
protein
complex
can
efficiently
transduce
the
PAH
cDNA
into
PAH
-
deficient
hepatocytes
in
vitro
,
but
the
application
of
these
vector
systems
is
presently
limited
by
their
low
transduction
efficiency
in
vivo
.
In
contrast
,
a
vector
derived
from
a
recombinant
adenovirus
can
restore
10
%
-
80
%
of
normal
hepatic
PAH
activity
into
PAH
-
deficient
mice
,
which
completely
normalizes
serum
phenylalanine
levels
.
This
treatment
is
transient
and
can
not
be
effectively
re
-administered
due
to
the
presence
of
neutralizing
antibodies
directed
against
the
recombinant
adenoviral
vector
.
However
,
these
findings
suggest
that
PKU
can
be
completely
corrected
by
somatic
gene
therapy
,
and
provide
some
direction
for
the
future
development
of
adenoviral
vectors
.
Diseases
Validation
Diseases presenting
"which completely normalizes serum phenylalanine levels"
symptom
classical phenylketonuria
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