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Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer.
[classical phenylketonuria]
Classical
phenylketonuria
(
PKU
)
,
which
predisposes
affected
individuals
to
severe
mental
retardation
,
is
caused
by
a
deficiency
of
hepatic
phenylalanine
hydroxylase
(
PAH
)
.
A
recombinant
adenoviral
vector
containing
the
human
PAH
cDNA
was
constructed
and
administered
to
PAH
-
deficient
mice
(
strain
PAHenu
2
)
.
The
hyperphenylalaninemic
phenotype
of
these
animals
was
completely
normalized
within
1
week
of
treatment
.
Although
this
therapeutic
effect
did
not
persist
,
analysis
of
the
relationship
between
hepatic
PAH
activity
and
serum
phenylalanine
levels
indicated
that
only
10
-
20
%
of
normal
enzymatic
activity
in
the
mouse
liver
is
sufficient
to
restore
normal
serum
phenylalanine
levels
.
These
results
demonstrate
that
PKU
and
other
metabolic
disorders
secondary
to
hepatic
deficiencies
can
be
completely
corrected
by
gene
therapy
when
more
persistent
vector
systems
are
developed
.
Diseases
Validation
Diseases presenting
"deficient mice"
symptom
achondroplasia
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cystinuria
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
junctional epidermolysis bullosa
kallmann syndrome
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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