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Our Project
Our Team
[Study on tetrahydrobiopterin deficiency in Northern Chinese population].
[classical phenylketonuria]
To
emphasize
early
differential
diagnosis
from
patients
with
hyperphenylalaninemia
(
HPA
)
and
to
evaluate
the
treatment
and
long
-term
outcome
of
patients
with
tetrahydrobiopterin
synthase
(
BH
4
)
deficiency
in
Northern
Chinese
population
.
From
1992
to
2005
,
a
total
of
618
patients
with
HPA
were
diagnosed
and
/
or
cared
for
in
our
outpatient
clinic
.
Urinary
pterin
analysis
,
detection
of
dihydropteridine
reductase
(
DHPR
)
activity
in
blood
,
and
then
BH
4
loading
tests
were
carried
out
to
differentiate
BH
4
deficiency
in
these
patients
from
classical
phenylketonuria
.
BH
4
deficient
patients
were
treated
with
BH
4
,
levodopa
and
5
-
hydroxytryptophane
(
5
-
HTP
)
immediately
while
the
diagnosis
was
done
to
disease
.
Patientso
blood
phenylalanine
levels
,
psychomotor
and
intelligence
development
were
followed
up
.
A
total
of
38
cases
were
diagnosed
as
BH
4
deficiency
,
all
of
them
were
revealed
as
6
-
pyruvoyl-tetrahydropterin
synthase
(
PTPS
)
deficiency
from
the
extremely
decreased
urine
biopterin
,
normal
DHPR
activities
and
drop
down
of
blood
phenylalanine
level
to
normal
range
within
4
to
8
hours
after
BH
4
loading
.
The
most
common
manifestations
were
progressively
psychomotor
and
mental
retardation
to
patients
even
after
taking
early
dietary
treatment
.
The
patients
were
diagnosed
and
treated
with
drugs
at
the
ages
of
2
.
1
months
to
13
years
.
With
4
patients
died
of
pneumonia
,
7
patients
refused
to
treatment
,
only
27
patients
were
under
treatment
and
followed
up
.
The
average
full
scale
development
or
intelligence
quotient
(
DQ
/
IQ
)
of
patients
who
were
treated
within
and
after
6
months
were
86
+
/
-
10
or
66
+
/
-
7
respectively
.
Development
was
not
even
in
different
aspects
.
A
significant
negative
correlation
was
observed
between
the
level
of
the
DQ
and
the
age
of
treatment
commenced
(
r
was
-
0
.
714
,
P
<
0
.
01
)
.
Eleven
patients
experienced
the
extrapyramidal
movement
disorders
,
3
of
them
combined
with
epilepsy
.
The
extrapyramidal
disorders
were
controlled
by
administration
of
levodopa
.
The
differential
diagnosis
for
BH
4
deficiency
should
be
carried
out
in
all
patients
with
HPA
.
PTPS
deficiency
is
the
most
common
form
of
BH
4
deficiency
in
Northern
Chinese
population
.
The
long
-term
outcome
of
these
patients
benefits
from
diagnosis
and
treatment
with
BH
4
,
levodopa
and
5
-
HTP
as
early
as
possible
.
Diseases
Validation
Diseases presenting
"mental retardation to patients even after taking early dietary treatment"
symptom
classical phenylketonuria
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