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
"complex disease"
symptom
adrenomyeloneuropathy
cadasil
carcinoma of the gallbladder
congenital adrenal hyperplasia
cushing syndrome
kabuki syndrome
krabbe disease
pendred syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom