Rare Diseases Symptoms Automatic Extraction
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Upregulation of N-acetylaspartic acid induces oxidative stress to contribute in disease pathophysiology.
[canavan disease]
N-
acetylaspartic
acid
(
NAA
)
is
predominantly
present
in
brain
and
also
present
in
lower
amount
in
peripheral
organs
.
The
role
of
NAA
in
pathophysiology
is
poorly
understood
.
Therefore
the
review
was
aimed
to
understand
contribution
of
NAA
in
disease
process
.
Amniotic
fluid
of
mothers
with
Canavan
disease
(
CD
)
fetus
and
patients
with
the
disease
show
increased
levels
of
NAA
.
Increase
of
this
pathway
is
also
reported
in
Parkinson
's
disease
and
type
2
diabetes
.
In
HIV-related
dementia
,
NAA
is
affected
.
Recent
studies
suggest
that
upregulation
of
NAA
leads
to
oxidative
stress
including
upregulation
of
nitric
oxide
and
reducing
potential
antioxidants
.
NAA
also
leads
to
physiological
abnormalities
including
walking
disorder
.
These
changes
suggest
that
NAA
contributes
in
disease
pathophysiology
.
Diseases
Validation
Diseases presenting
"dementia"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
phenylketonuria
sneddon syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated