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Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria.
[classical phenylketonuria]
Recent
studies
indicate
that
individual
blood
-
brain
transport
characteristics
of
phenylalanine
may
lead
to
different
clinical
outcomes
in
phenylketonuria
(
PKU
)
patients
in
spite
of
comparable
dietary
control
.
To
check
these
preliminary
data
,
we
investigated
four
pairs
of
siblings
with
classical
PKU
(
and
identical
genotype
)
using
in
vivo
nuclear
magnetic
resonance
spectroscopy
in
the
course
of
an
oral
phenylalanine
load
(
100
mg
/
kg
body
weight
)
.
Patients
'
brain
phenylalanine
concentrations
were
different
in
spite
of
similar
blood
levels
.
Interindividual
variations
of
the
apparent
transport
Michaelis
constant
,
Kt
,
app
,
ranged
from
0
.
10
to
0
.
84
mmol
/
L
.
The
ratio
of
the
maximal
transport
velocity
,
Tmax
,
over
the
intracerebral
consumption
rate
,
Vmet
,
varied
between
2
.
61
and
14
.
0
.
Siblings
with
lower
values
for
Kt
,
app
,
higher
values
for
Tmax
/
Vmet
,
and
higher
concurrent
brain
phenylalanine
levels
showed
a
lower
IQ
and
a
higher
degree
of
cerebral
white
matter
abnormalities
.
The
results
indicate
that
blood
-
brain
barrier
transport
characteristics
and
the
resultant
brain
phenylalanine
levels
are
causative
factors
for
the
individual
clinical
outcome
in
PKU
.
Diseases
Validation
Diseases presenting
"brain transport characteristics"
symptom
classical phenylketonuria
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