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Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency.
[classical phenylketonuria]
Tetrahydrobiopterin
(
BH
(
4
)
)
deficiency
is
an
autosomal
recessive
disorder
caused
by
enzyme
defects
in
the
biosynthesis
or
recycling
of
BH
(
4
)
.
Patients
with
BH
(
4
)
deficiency
present
with
severe
neurological
signs
and
symptoms
and
require
a
different
treatment
from
classical
phenylketonuria
.
During
the
last
12
years
,
31
cases
of
BH
(
4
)
deficiency
were
identified
in
our
department
.
They
were
all
classified
as
6
-
pyruvoyl-tetrahydropterin
synthase
(
PTPS
)
deficiency
.
They
were
diagnosed
at
the
ages
of
2
.
5
-
48
months
and
treated
with
BH
(
4
)
,
L-
dopa
and
5
-
hydroxytryptophan
immediately
after
diagnosis
.
The
average
development
quotients
(
DQ
)
at
diagnosis
and
after
treatment
for
more
than
3
years
were
53
+
/
-
16
,
and
78
+
/
-
15
,
respectively
.
A
significant
negative
correlation
was
observed
between
the
level
of
the
DQ
and
the
age
at
which
treatment
was
commenced
(
r
=
-
0
.
751
,
p
=
0
.
002
)
.
Developmental
profiles
were
uneven
.
Language
,
adaptability
and
at
later
age
mathematics
were
particularly
weak
areas
.
Only
two
patients
achieved
a
good
performance
in
mathematics
.
Eleven
patients
who
were
treated
with
drugs
from
ages
of
2
.
9
-
48
months
had
neuroradiological
scanning
.
Computed
tomography
disclosed
calcification
in
lentiform
nuclei
in
one
patient
and
magnetic
resonance
imaging
disclosed
delayed
myelination
and
abnormal
high
intensity
signal
in
cerebral
white
matter
in
all
of
them
.
Even
though
most
of
abnormalities
were
reversible
,
small
patchy
or
spotted
areas
were
still
present
on
these
regions
after
treatment
for
10
-
46
months
.
In
summary
,
our
study
supports
the
substantial
efficacy
of
the
current
therapeutic
approach
in
PTPS
deficiency
of
normalizing
amine
neurotransmitters
with
three
drugs
as
early
as
possible
.
For
the
first
time
,
calcifications
could
be
detected
in
patients
with
PTPS
deficiency
.
Abnormalities
in
white
matter
on
magnetic
resonance
imaging
were
not
related
to
clinical
manifestations
and
most
were
reversible
.
Diseases
Validation
Diseases presenting
"abnormal high intensity signal in cerebral white matter in all of them"
symptom
classical phenylketonuria
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