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Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong.
[phenylketonuria]
To
evaluate
the
cost-benefit
of
implementing
an
expanded
newborn
screening
programme
for
hyperphenylalaninemias
due
to
6
-
pyruvoyl-tetrahydropterin
synthase
(
PTPS
)
deficiency
in
Hong
Kong
.
Regional
public
hospitals
in
Hong
Kong
providing
care
for
cases
of
inborn
errors
of
metabolism
.
Implementational
and
operational
costs
of
a
new
expanded
mass
spectrometry-based
newborn
screening
programme
were
estimated
.
Data
on
various
medical
expenditures
for
the
mild
and
severe
phenotypic
subtypes
were
gathered
from
a
case
cohort
diagnosed
with
PTPS
deficiency
from
2001
to
2009
.
Local
incidence
from
a
previously
published
study
was
used
.
Implementation
and
operational
costs
of
an
expanded
newborn
screening
programme
in
Hong
Kong
were
estimated
at
HKD
10
,
473
,
848
(
USD
1
,
342
,
801
)
annually
.
Assuming
a
birthrate
of
50
,
000
per
year
and
an
incidence
of
1
in
29
,
542
live
births
,
the
medical
costs
and
adjusted
loss
of
workforce
per
year
would
be
HKD
20
,
773
,
207
(
USD
2
,
663
,
232
)
.
Overall
the
annual
savings
from
implementing
the
programme
would
be
HKD
9
,
632
,
750
(
USD
1
,
234
,
968
)
.
Our
estimates
show
that
implementation
of
an
expanded
newborn
screening
programme
in
Hong
Kong
is
cost-effective
,
with
a
significant
annual
saving
for
public
expenditure
.
Diseases
Validation
Diseases presenting
"various medical expenditures"
symptom
phenylketonuria
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