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Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.
[]
A
60
-
year
-old
Japanese
man
was
diagnosed
as
having
hypouricemia
at
an
annual
health
check-up
.
The
routine
laboratory
data
was
not
remarkable
except
that
the
patient
's
hypouricemia
and
plasma
levels
of
xanthine
and
hypoxanthine
were
much
higher
than
those
of
normal
subjects
.
Furthermore
,
the
patient
's
daily
urinary
excretion
of
xanthine
and
hypoxanthine
was
markedly
increased
compared
with
reference
values
.
The
xanthine
dehyrogenase
activity
of
the
duodenal
mucosa
was
below
the
limits
of
detection
.
Nevertheless
,
allopurinol
was
metabolized
to
oxypurinol
in
vivo
.
Based
on
these
findings
,
a
subtype
of
classical
xanthinuria
(
type
I
)
was
diagnosed
.
The
xanthine
dehyrogenase
protein
was
detected
by
Western
blotting
analysis
.
Sequencing
of
the
cDNA
of
the
xanthine
dehyrogenase
obtained
from
the
duodenal
mucosa
revealed
that
a
point
mutation
of
C
to
T
had
occurred
in
nucleotide
445
.
This
changed
codon
149
from
CGC
(
Arg
)
to
TGC
(
Cys
)
,
a
finding
that
has
not
been
previously
reported
in
patients
with
classical
xanthinuria
type
I
.
