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Postnatal growth in a mouse genetic model of classical phenylketonuria.
[classical phenylketonuria]
Because
of
the
ethical
problems
of
withholding
dietary
treatment
from
patients
with
phenylketonuria
,
effectively
studying
long
-term
effects
such
as
postnatal
growth
rates
is
difficult
or
impossible
.
The
only
literature
available
on
the
growth
rate
of
phenylketonurics
dates
from
the
era
before
effective
dietary
treatment
regimens
were
instituted
routinely
.
Although
some
of
these
studies
suggest
that
these
patients
have
a
reduced
growth
rate
,
whether
this
is
a
consistent
feature
of
the
untreated
phenylketonuric
is
unclear
.
The
mutant
mouse
line
BTBR-Pahenu
,
a
genetic
model
for
human
phenylketonuria
,
provides
an
opportunity
to
conduct
studies
that
will
clarify
this
issue
.
In
this
study
,
the
weights
of
newborn
mice
were
monitored
from
about
7
to
40
days
after
birth
.
Comparison
to
heterozygous
,
sex-matched
littermates
revealed
a
reduction
in
the
size
of
homozygous
mutants
throughout
the
study
.
Therefore
,
reduced
postnatal
growth
is
an
abiding
feature
of
phenylketonuria
in
this
mouse
model
.
This
finding
not
only
helps
to
document
the
association
between
size
reduction
and
untreated
phenylketonuria
but
also
sets
the
stage
for
studies
designed
to
investigate
the
means
by
which
size
reduction
occurs
.