Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.
[]
We
tested
the
hypothesis
that
there
is
an
enhanced
rate
of
hypoxanthine
salvage
in
two
siblings
with
hereditary
xanthinuria
.
We
radiolabeled
the
adenine
nucleotide
pool
with
[
8
-
14
C
]
adenine
and
examined
purine
nucleotide
degradation
after
intravenous
fructose
.
The
cumulative
excretion
of
radioactivity
during
a
5
-
d
period
was
9
.
7
%
and
9
.
1
%
of
infused
radioactivity
in
the
enzyme-
deficient
patients
and
6
.
0
+
/
-
0
.
7
%
(
mean
+
/
-
SE
)
in
four
normal
subjects
.
Fructose
infusion
increased
urinary
radioactivity
to
7
.
96
and
9
.
16
X
10
(
6
)
cpm
/
g
creatinine
in
both
patients
and
to
4
.
73
+
/
-
0
.
69
X
10
(
6
)
cpm
/
g
creatinine
in
controls
.
The
infusion
of
fructose
increased
total
urinary
purine
excretion
to
a
mean
of
487
%
from
low
-normal
baseline
values
in
the
patients
and
to
398
+
/
-
86
%
in
control
subjects
.
In
the
enzyme-
deficient
patients
,
the
infusion
of
fructose
elicited
an
increase
of
plasma
guanosine
from
undetectable
values
to
0
.
7
and
0
.
9
microM
.
With
adjustments
made
for
intestinal
purine
loss
,
these
data
support
the
hypothesis
that
there
is
enhanced
hypoxanthine
salvage
in
hereditary
xanthinuria
.
Degradation
of
guanine
nucleotides
to
xanthine
bypasses
the
hypoxanthine
salvage
pathway
and
may
explain
the
predominance
of
this
urinary
purine
compound
in
xanthinuria
.
