Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.
[]
The
article
describes
the
clinical
,
biochemical
,
enzymological
and
molecular
genetics
findings
in
two
patients
from
two
families
with
xanthinuria
type
I
.
Biochemical
analysis
using
high
performance
liquid
chromatography
,
allopurinol
loading
test
and
analysis
of
xanthine
oxidase
activity
in
plasma
and
of
uromodulin
excretion
in
urine
were
performed
.
Sequencing
analysis
of
the
xanthine
dehydrogenase
gene
and
the
haplotype
and
statistical
analyses
of
consanguinity
were
performed
.
Probands
showed
extremely
low
concentrations
of
uric
acid
,
on
seven
occasions
under
the
limit
of
detection
.
The
concentration
of
uric
acid
in
38
-
year
-old
female
was
15
μmol
/
L
in
serum
and
0
.
04
mmol
/
L
in
urine
.
Excretion
of
xanthine
in
urine
was
170
mmol
/
mol
creatinine
.
The
concentration
of
uric
acid
in
25
-
year
-old
male
was
0
.
03
mmol
/
L
in
urine
.
Excretion
of
xanthine
in
urine
was
141
mmol
/
mol
creatinine
.
The
allopurinol
loading
test
confirmed
xanthinuria
type
I
.
The
xanthine
oxidase
activities
in
patients
were
0
and
0
.
4
pmol
/
h
/
mL
of
plasma
.
We
found
three
nonsense
changes
:
p
.
P
214
QfsX
4
and
unpublished
p
.
R
825
X
and
p
.
R
881
X
.
We
found
two
nonconsanguineous
compound
heterozygotes
with
xanthinuria
type
I
caused
by
three
nonsense
changes
.
The
methods
used
did
not
confirm
consanguinity
in
the
probands
,
thus
there
might
be
an
unconfirmed
biological
relationship
or
mutational
hotspot
.
