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Oral findings associated with primary hyperoxaluria type I.
[primary hyperoxaluria type 1]
In
the
present
paper
we
report
the
oral
findings
of
a
patient
who
was
diagnosed
with
hyperoxaluria
.
Hyperoxalurias
can
basically
be
classified
as
primary
and
secondary
,
with
the
first
being
inborn
errors
of
metabolism
and
the
second
a
result
of
excessive
oxalate
intake
.
Primary
hyperoxalurias
form
a
rare
group
of
metabolic
diseases
that
are
inherited
in
the
autosomal
recessive
fashion
.
The
affected
genes
code
for
specific
hepatic
enzymes
that
are
involved
in
glyoxylate
metabolism
and
their
deficiency
results
in
overproduction
of
oxalate
.
Two
different
types
are
described
:
Primary
hyperoxaluria
type
I
results
from
a
deficiency
of
peroxisomal
enzyme
alanine-glyoxylate
aminotransferase
and
the
more
rare
type
II
from
a
deficiency
of
cytosolic
enzyme
D-
glycerate
dehydrogenase
.
Since
oxalate
is
primarily
excreted
through
the
kidneys
,
abnormally
high
concentration
of
oxalate
in
the
urine
occurs
.
This
can
in
turn
result
in
recurrent
kidney
stones
and
parenchymal
renal
damage
and
end-
stage
renal
disease
(
ESRD
)
.
Inability
to
further
excrete
oxalate
through
the
kidneys
leads
to
its
deposition
in
various
organs
(
oxalosis
)
.
Several
oral
findings
have
been
described
in
patients
with
oxalosis
,
most
important
of
whose
are
bone
resorption
in
the
jaws
,
external
root
resorption
and
rapidly
progressive
dental
mobility
,
as
well
as
dental
pain
associated
with
deposition
of
oxalate
in
the
dentine
and
the
pulp
.
Diseases
Validation
Diseases presenting
"deficiency of cytosolic enzyme"
symptom
primary hyperoxaluria type 1
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