Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Aspartoacylase supports oxidative energy metabolism during myelination.
[canavan disease]
The
inherited
leukodystrophy
Canavan
disease
arises
due
to
a
loss
of
the
ability
to
catabolize
N-
acetylaspartic
acid
(
NAA
)
in
the
brain
and
constitutes
a
major
point
of
focus
for
efforts
to
define
NAA
function
.
Accumulation
of
noncatabolized
NAA
is
diagnostic
for
Canavan
disease
,
but
contrasts
with
the
abnormally
low
NAA
associated
with
compromised
neuronal
integrity
in
a
broad
spectrum
of
other
clinical
conditions
.
Experimental
evidence
for
NAA
function
supports
a
role
in
white
matter
lipid
synthesis
,
but
does
not
explain
how
both
elevated
and
lowered
NAA
can
be
associated
with
pathology
in
the
brain
.
We
have
undertaken
a
systematic
analysis
of
postnatal
development
in
a
mouse
model
of
Canavan
disease
that
delineates
development
and
pathology
by
identifying
markers
of
oxidative
stress
preceding
oligodendrocyte
loss
and
dysmyelination
.
These
data
suggest
a
role
for
NAA
in
the
maintenance
of
metabolic
integrity
in
oligodendrocytes
that
may
be
of
relevance
to
the
strong
association
between
NAA
and
neuronal
viability
.
N-
acetylaspartic
acid
is
proposed
here
to
support
lipid
synthesis
and
energy
metabolism
via
the
provision
of
substrate
for
both
cellular
processes
during
early
postnatal
development
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated