Rare Diseases Symptoms Automatic Extraction
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Very long chain fatty acid levels in patients diagnosed with multiple sclerosis.
[adrenomyeloneuropathy]
In
clinical
practice
it
is
not
uncommon
for
patients
with
adrenomyeloneuropathy
or
female
carriers
of
adrenoleucodystrophy
to
have
a
presenting
history
and
examination
compatible
with
multiple
sclerosis
.
This
suggests
that
there
may
be
an
under-diagnosis
of
adrenoleucodystrophy
and
its
variants
in
the
multiple
sclerosis
population
.
We
measured
levels
of
very
long
chain
fatty
acids
,
which
are
typically
elevated
in
the
plasma
of
patients
with
adrenoleucodystrophy
,
in
a
large
cohort
of
patients
diagnosed
clinically
with
multiple
sclerosis
.
We
tested
serum
samples
from
patients
with
either
a
first
degree
relative
with
multiple
sclerosis
or
those
with
a
primary
progressive
phenotype
.
No
elevations
in
very
long
chain
fatty
acids
were
found
in
the
cohort
.
This
study
suggests
that
the
number
of
cases
of
adrenomyeloneuropathy
or
adrenoleucodystrophy
amongst
patients
diagnosed
clinically
with
multiple
sclerosis
is
likely
to
be
extremely
low
.
This
has
important
diagnostic
implications
.
Diseases
Validation
Diseases presenting
"large cohort"
symptom
adrenal incidentaloma
adrenomyeloneuropathy
cadasil
child syndrome
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
oligodontia
pendred syndrome
phenylketonuria
thoracic outlet syndrome
waldenström macroglobulinemia
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