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Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
[classical phenylketonuria]
Tetrahydrobiopterin
(
BH
4
)
deficiency
among
newborns
with
hyperphenylalaninemia
must
be
rapidly
diagnosed
and
distinguished
from
classical
phenylketonuria
(
PKU
)
to
initiate
immediately
specific
treatment
and
to
prevent
irreversible
neurological
damage
.
The
characteristic
pattern
of
urinary
pterins
makes
it
possible
to
differentiate
between
PKU
and
BH
4
deficiencies
,
and
to
identify
different
variants
of
BH
4
deficiency
.
However
,
collection
,
storage
,
and
shipment
of
urine
samples
for
pterin
analysis
is
cumbersome
.
A
method
for
the
measurement
of
different
pterins
(
neopterin
,
biopterin
,
and
pterin
)
in
blood
collected
on
filter
paper
was
developed
as
a
potential
alternative
to
the
screening
for
BH
4
deficiencies
in
urine
and
for
the
monitoring
of
BH
4
pharmacokinetics
.
Pterins
pattern
in
blood
spots
was
comparable
with
those
in
plasma
and
urine
.
We
thus
established
reference
values
for
pterins
in
blood
spots
in
patients
with
hyperphenylalaninemia
and
identified
new
patients
with
GTP
cyclohydrolase
I
deficiency
,
6
-
pyruvoyl-tetrahydropterin
synthase
deficiency
,
and
dihydropteridine
reductase
deficiency
using
dried
blood
spots
on
filter
paper
.
