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The phenylalanine response curve in relation to growth and mental development in the first year of life.
[classical phenylketonuria]
Thirty
-
three
children
with
classical
phenylketonuria
were
treated
from
9
to
21
days
of
age
onward
.
The
standard
for
phenylalanine
concentration
was
0
.
2
-
0
.
5
mmol
/
l
.
During
the
first
years
of
life
phenylalanine
concentrations
were
measured
once
every
two
to
six
weeks
.
For
each
child
these
values
were
graphically
plotted
in
a
so
-called
phenylalanine
response
curve
.
Growth
and
mental
development
indices
were
assessed
at
about
one
and
two
years
of
age
.
Measurements
for
weight
,
height
and
head
circumference
were
normal
at
one
month
of
age
,
showed
a
significant
decline
at
the
age
of
one
year
but
were
restored
for
normal
values
at
the
age
of
two
.
No
associations
were
found
with
phenylalanine
parameters
.
Mental
development
indices
at
one
and
two
years
were
not
different
from
normal
.
Significant
negative
correlations
were
found
between
mental
development
indices
at
one
year
and
phenylalanine
values
above
0
.
5
mmol
/
l
.
Changes
in
mental
development
indices
between
the
first
and
second
years
of
life
are
significantly
related
to
the
phenylalanine
levels
during
the
second
year
of
life
.
Diseases
Validation
Diseases presenting
"head circumference"
symptom
achondroplasia
alexander disease
classical phenylketonuria
congenital diaphragmatic hernia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
phenylketonuria
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