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Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
[primary hyperoxaluria type 1]
Primary
hyperoxaluria
type
1
is
a
rare
autosomal
recessive
disease
of
glyoxylate
metabolism
caused
by
a
defect
in
the
liver
-
specific
peroxisomal
enzyme
alanine
:
glyoxylate
aminotransferase
(
AGT
)
that
leads
to
hyperoxaluria
,
recurrent
urolithiasis
,
and
nephrocalcinosis
.
Two
unrelated
patients
with
recurrent
urolithiasis
,
along
with
members
of
their
families
,
exhibited
mutations
in
the
AGXT
gene
by
PCR
direct
sequencing
.
Two
heterozygous
mutations
that
predict
truncated
proteins
,
p
.
S
81
X
and
p
.
S
275
delinsRAfs
,
were
identified
in
one
patient
.
The
p
.
S
81
X
mutation
is
novel
.
Two
heterozygous
missense
mutations
,
p
.
M
1
T
and
p
.
I
202
N
,
were
detected
in
another
patient
but
were
not
identified
in
her
sibling
.
These
four
mutations
were
confirmed
to
be
of
paternal
and
maternal
origin
.
These
are
the
first
cases
of
primary
hyperoxaluria
type
1
to
be
diagnosed
by
clinical
manifestations
and
AGXT
gene
mutations
in
mainland
China
.
The
novel
p
.
S
81
X
and
p
.
I
202
N
mutations
detected
in
our
study
extend
the
spectrum
of
known
AGXT
gene
mutations
.
Diseases
Validation
Diseases presenting
"recurrent urolithiasis"
symptom
cystinuria
primary hyperoxaluria type 1
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