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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
)
.
Three
different
vector
systems
have
been
developed
to
examine
the
potential
of
somatic
gene
therapy
for
the
treatment
of
PKU
.
Recombinant
retroviral
vectors
and
DNA
/
protein
complexes
can
efficiently
transduce
PAH
-
deficient
hepatocytes
in
vitro
,
but
their
present
application
is
limited
by
their
low
transduction
efficiency
in
vivo
.
In
contrast
,
infusion
of
a
recombinant
adenoviral
vector
expressing
the
human
PAH
cDNA
into
the
portal
circulation
of
PAH
-
deficient
mice
restores
10
-
80
%
of
normal
hepatic
PAH
activity
and
completely
normalizes
serum
phenylalanine
levels
.
At
present
,
this
effect
is
transient
and
re
-administration
has
no
further
effect
.
However
,
this
result
suggests
that
PKU
can
be
completely
corrected
by
somatic
gene
therapy
as
more
persistent
vectors
are
developed
.
Diseases
Validation
Diseases presenting
"efficiently transduce"
symptom
classical phenylketonuria
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