Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.
[adrenomyeloneuropathy]
X-
adrenoleukodystrophy
(
X-
ALD
)
is
a
complex
disease
where
inactivation
of
ABCD
1
gene
results
in
clinically
diverse
phenotypes
,
the
fatal
disorder
of
cerebral
ALD
(
cALD
)
or
a
milder
disorder
of
adrenomyeloneuropathy
(
AMN
)
.
Loss
of
ABCD
1
function
results
in
defective
beta
oxidation
of
very
long
chain
fatty
acids
(
VLCFA
)
resulting
in
excessive
accumulation
of
VLCFA
,
the
biochemical
"
hall
mark
"
of
X-
ALD
.
At
present
,
the
ABCD
1
-
mediated
mechanisms
that
determine
the
different
phenotype
of
X-
ALD
are
not
well
understood
.
The
studies
reviewed
here
suggest
for
a
"
three
-hit
hypothesis
"
for
neuropathology
of
cALD
.
An
improved
understanding
of
the
molecular
mechanisms
associated
with
these
three
phases
of
cALD
disease
should
facilitate
the
development
of
effective
pharmacological
therapeutics
for
X-
ALD
.
Diseases
Validation
Diseases presenting
"improved understanding of the molecular mechanisms"
symptom
adrenomyeloneuropathy
x-linked adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
