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Asymptomatic hereditary xanthinuria: a case report.
[]
A
22
-
year
-old
man
with
hereditary
xanthinuria
is
reported
.
A
biochemical
study
of
the
patient
showed
elevated
serum
levels
of
xanthine
and
hypoxanthine
with
concomitant
increases
in
urinary
excretion
of
xanthine
and
hypoxanthine
.
The
xanthine
oxidase
activity
in
the
duodenal
mucosa
of
the
patient
was
about
1
.
5
%
of
normal
value
.
Urinary
excretion
of
xanthine
and
hypoxanthine
of
his
parents
and
his
eldest
brother
were
significantly
higher
than
the
corresponding
normal
values
,
but
the
values
were
much
less
than
those
of
the
patient
.
The
results
suggested
that
the
patient
was
homozygote
,
and
his
parents
and
his
eldest
brother
were
heterozygotes
.
