Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"nuclear magnetic resonance spectroscopy in the course of an oral phenylalanine load"
symptom
classical phenylketonuria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom