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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
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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