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Molecular insights into primary hyperoxaluria type 1 pathogenesis.
[primary hyperoxaluria type 1]
Primary
hyperoxaluria
type
1
(
PH
1
)
is
a
rare
autosomal
recessive
disorder
of
glyoxylate
metabolism
caused
by
the
deficiency
of
liver
peroxisomal
alanine
:
glyoxylate
aminotransferase
(
AGT
)
,
a
pyridoxal
5
'
-
phosphate
(
PLP
)
-
dependent
enzyme
.
The
PH
1
pathogenesis
is
mostly
due
to
single
point
mutations
(
more
than
150
so
far
identified
)
on
the
AGXT
gene
,
and
is
characterized
by
a
marked
heterogeneity
in
terms
of
genotype
,
enzymatic
and
clinical
phenotypes
.
This
article
presents
an
up
to
date
review
of
selected
aspects
of
the
biochemical
properties
of
the
two
allelic
forms
of
AGT
and
of
some
PH
1
-
causing
variants
.
These
recent
discoveries
highlight
the
effects
at
the
protein
level
of
the
pathogenic
mutations
,
and
,
together
with
previous
cell
biology
and
clinical
data
,
(
i
)
improve
the
understanding
of
the
molecular
basis
of
PH
1
pathogenesis
,
and
(
ii
)
help
to
delineate
perspectives
for
predicting
the
response
to
pyridoxine
treatment
or
for
suggesting
new
strategies
for
PH
1
patients
bearing
the
analyzed
mutations
.
Diseases
Validation
Diseases presenting
"hyperoxaluria"
symptom
cystinuria
neonatal adrenoleukodystrophy
primary hyperoxaluria type 1
This symptom has already been validated
