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Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.
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The
objectives
of
this
study
were
to
find
additional
diagnostic
information
for
the
evaluation
of
xanthine
dehydrogenase
deficiency
and
molybdenum
cofactor
deficiency
.
Patients
were
given
an
oral
loading
test
with
10
mg
/
kg
5
,
6
,
7
,
8
-
tetrahydrobiopterin
.
Urine
excretion
of
pterin
and
isoxanthopterin
was
measured
by
HPLC
.
Control
subjects
had
a
fairly
constant
ratio
of
urinary
pterin
/
isoxanthopterin
before
(
0
.
57
-
5
.
32
)
and
after
(
0
.
55
-
4
.
55
)
5
,
6
,
7
,
8
-
tetrahydrobiopterin
loading
.
These
ratios
were
increased
to
33
and
22
in
a
patient
with
hereditary
xanthinuria
and
to
570
and
8030
in
a
patient
with
molybdenum
cofactor
deficiency
.
Obligate
heterozygotes
had
an
entirely
normal
test
result
.
Evidence
was
obtained
for
the
in
vivo
involvement
of
xanthine
dehydrogenase
in
the
conversion
of
pterin
to
isoxanthopterin
.
This
test
could
be
a
sensitive
marker
for
the
establishment
of
residual
enzyme
activity
.
