Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
[adrenomyeloneuropathy]
Adrenoleukodystrophy
(
ALD
)
and
adrenomyeloneuropathy
(
AMN
)
are
allelic
X-
chromosomal
disorders
of
peroxisomal
lipid
metabolism
due
to
mutations
of
the
ABCD
1
-
gene
,
leading
,
respectively
,
to
leukoencephalopathy
or
myeloneuropathy
in
male
patients
.
We
report
a
family
with
two
symptomatic
carriers
in
subsequent
generations
who
both
suffer
from
symptoms
of
an
AMN
.
In
both
patients
,
molecular
genetic
testing
revealed
a
heterozygous
c
.
1552
C
>
T
-
transition
(
p
.
Arg
518
Trp
)
in
exon
6
of
ABCD
1
.
Our
observations
underline
the
importance
of
identifying
such
symptomatic
ALD
carriers
.
Diseases
Validation
Diseases presenting
"molecular genetic testing"
symptom
achondroplasia
adrenomyeloneuropathy
dentinogenesis imperfecta
kabuki syndrome
pendred syndrome
von hippel-lindau disease
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