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Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria.
[]
The
purine
metabolism
of
four
cases
with
marked
hypouricemia
(
serum
uric
acid
concentration
of
less
than
0
.
018
mmol
/
l
)
from
three
Japanese
families
was
investigated
.
Erythrocyte
adenosine
deaminase
(
EC
3
.
5
.
4
.
4
)
and
purine-nucleoside
phosphorylase
(
EC
2
.
4
.
2
.
1
)
activities
of
the
patients
were
within
the
normal
ranges
.
Urinary
hypoxanthine
and
xanthine
concentrations
were
0
.
096
-
0
.
397
mmol
/
l
and
0
.
743
-
1
.
717
mmol
/
l
,
respectively
.
Xanthine
oxidase
(
EC
1
.
2
.
3
.
2
)
activities
in
the
jejunal
mucosa
of
the
two
normal
controls
were
0
.
257
and
0
.
283
units
/
g
protein
,
while
those
of
three
of
the
patients
were
extremely
low
and
could
not
be
determined
.
The
findings
of
these
biochemical
features
may
indicate
that
the
four
patients
have
hereditary
xanthinuria
.
In
order
to
study
the
purine
metabolism
in
the
hypouricemic
condition
of
this
disorder
,
a
single
oral
dose
of
allopurinol
(
4
-
hydroxypyrazolo
[
3
,
4
-
d
]
pyrimidine
)
was
administered
in
one
case
.
The
excretion
pattern
of
allopurinol
and
oxypurinol
(
4
,
6
-
dihydroxypyrazolo
[
3
,
4
-
d
]
pyrimidine
)
in
the
urine
of
the
patient
was
similar
to
that
of
a
normal
control
male
.
These
data
suggest
that
some
residual
enzyme
activity
may
be
functioning
in
vivo
,
although
the
presence
of
xanthine
oxidase
could
not
be
detected
.
