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Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions.
[canavan disease]
The
brain
contains
high
concentrations
of
the
amino
acid
N-
acetyl-l-aspartate
(
NAA
)
and
its
'
glutamate
adduct
N-
acetyl-l-aspartylglutamate
(
NAAG
)
,
both
synthesized
primarily
by
and
stored
in
neurons
.
Upon
depolarization
both
are
exported
to
extracellular
fluid
(
ECF
)
with
NAA
targeted
to
oligodendrocytes
and
NAAG
targeted
to
astrocytes
where
they
are
hydrolyzed
by
specific
enzymes
.
While
the
functions
of
these
substances
are
incompletely
known
,
their
unique
tri
-cellular
metabolism
is
apparently
vital
to
normal
brain
function
.
Canavan
disease
(
CD
)
is
a
globally
occurring
but
rare
early
-onset
human
spongiform
leukodystrophy
associated
with
inborn
genetic
errors
affecting
the
activity
of
aspartoacylase
(
ASPA
)
,
the
enzyme
highly
expressed
in
oligodendrocytes
that
hydrolyzes
NAA
.
Several
hypotheses
attempt
to
explain
how
the
lack
of
ASPA
activity
results
in
the
inability
of
oligodendrocytes
to
build
or
maintain
axon-enveloping
myelin
sheaths
,
a
failure
reflected
in
the
CD
syndrome
by
profound
neurological
disturbances
.
Based
on
evidence
provided
by
recent
studies
,
as
well
as
on
descriptions
of
several
atypical
mild
cases
of
CD
and
of
a
singular
human
case
of
an
inborn
error
where
NAA
can
not
be
synthesized
,
we
provide
insights
into
the
possible
genesis
of
the
CD
syndrome
and
many
of
its
phenotypic
expressions
.
In
this
article
we
also
evaluate
current
hypotheses
,
and
discuss
possible
clinical
interventions
that
may
be
of
value
in
treatment
of
CD
.
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