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[Hereditary xanthinuria. A clinical case report].
[]
A
case
of
hereditary
xanthinuria
in
a
68
-
year
-old
man
with
congestive
heart
failure
and
alcoholic
liver
disease
is
presented
.
Urolithiasis
and
muscular
symptoms
were
absent
,
and
the
metabolic
error
was
revealed
by
hypouricemia
,
hypouricosuria
and
excess
of
xanthine
and
hypoxanthine
excretion
in
urine
.
Xanthine
oxidase
(
EC
1
.
2
.
3
.
2
)
activity
in
liver
tissue
was
absent
,
confirming
the
diagnosis
of
xanthinuria
.
