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Cranial MR spectroscopy of tetrahydrobiopterin deficiency.
[classical phenylketonuria]
Severe
and
progressive
neurologic
disease
remains
a
problem
for
patients
with
hyperphenylalaninemia
due
to
a
deficiency
of
tetrahydrobiopterin
(
BH
4
)
,
even
with
early
diagnosis
and
despite
treatment
with
BH
4
and
neurotransmitter
precursors
.
Few
reports
have
included
the
associated
imaging
characteristics
.
Our
purpose
was
to
describe
the
imaging
features
of
BH
4
-
deficient
patients
identified
by
neonatal
screening
in
a
Taiwanese
population
and
to
correlate
the
imaging
features
with
the
treatment
.
This
study
analyzed
the
cases
of
eight
BH
4
-
deficient
patients
who
were
examined
by
MR
imaging
and
MR
spectroscopy
.
Analysis
of
the
findings
was
correlated
with
the
clinical
findings
.
One
patient
whose
intelligence
quotient
score
was
lower
than
those
of
the
other
seven
patients
experienced
seizures
in
conjunction
with
central
white
matter
signal
changes
on
MR
images
and
a
lactate
peak
on
MR
spectroscopy
.
Lactate
peak
was
revealed
in
another
patient
who
had
marked
elevations
of
N-
acetylaspartate
:
creatine
and
N-
acetylaspartate
:
choline
ratios
.
Although
most
patients
had
a
higher
than
average
N-
acetylaspartate
:
creatine
or
N-
acetylaspartate
:
choline
ratio
,
the
patient
who
had
decreases
of
both
ratios
possessed
the
highest
intelligence
quotient
scores
among
the
eight
patients
.
In
addition
,
the
myoinositol
:
choline
ratio
correlated
positively
with
the
average
BH
4
dosage
(
P
=
.
027
,
r
=
0
.
027
)
and
the
choline
:
creatine
ratio
correlated
negatively
with
the
average
5
-
hydroxytryptophan
dosage
(
P
=
.
035
,
r
=
-
0
.
742
)
.
Compared
with
classical
phenylketonuria
,
patients
with
BH
4
deficiency
have
fewer
white
matter
changes
revealed
by
MR
imaging
but
more
changes
revealed
by
MR
spectroscopy
.
MR
spectroscopy
is
a
potential
method
with
which
to
monitor
the
dosages
of
supplements
used
to
treat
this
disorder
.
In
addition
,
MR
spectroscopy
may
be
helpful
in
gaining
understanding
of
the
neurophysiological
changes
that
occur
in
association
with
this
disease
.
Diseases
Validation
Diseases presenting
"white matter changes"
symptom
alexander disease
cadasil
canavan disease
classical phenylketonuria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
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