Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Metabolic disturbances in diseases with neurological involvement.
[phenylketonuria]
Degeneration
of
specific
neuronal
populations
and
progressive
nervous
system
dysfunction
characterize
neurodegenerative
diseases
,
including
Alzheimer
's
disease
and
Parkinson
's
disease
.
These
findings
are
also
reported
in
inherited
diseases
such
as
phenylketonuria
and
glutaric
aciduria
type
I
.
The
involvement
of
mitochondrial
dysfunction
in
these
diseases
was
reported
,
elicited
by
genetic
alterations
,
exogenous
toxins
or
buildup
of
toxic
metabolites
.
In
this
review
we
shall
discuss
some
metabolic
alterations
related
to
the
pathophysiology
of
diseases
with
neurological
involvement
and
aging
process
.
These
findings
may
help
identifying
early
disease
biomarkers
and
lead
to
more
effective
therapies
to
improve
the
quality
of
life
of
the
patients
affected
by
these
devastating
illnesses
.
Diseases
Validation
Diseases presenting
"glutaric aciduria"
symptom
canavan disease
homocystinuria without methylmalonic aciduria
phenylketonuria
pyruvate dehydrogenase deficiency
This symptom has already been validated
