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A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
a
rare
peroxisomal
disorder
,
that
is
rapidly
progressive
,
neurodegenerative
,
and
recessive
,
and
characteristically
primary
affects
the
central
nervous
system
white
matter
and
the
adrenal
cortex
.
X-
ALD
is
diagnosed
basaed
on
clinical
,
radiological
,
and
serological
parameters
,
including
elevated
plasma
levels
of
very
long
chain
fatty
acids
(
VLCFA
)
,
such
as
C
2
4
:
0
and
C
2
6
:
0
,
and
high
C
2
4
:
0
/
C
2
2
:
0
and
C
2
6
:
0
/
C
2
2
:
0
ratios
.
These
tests
are
complemented
with
genetic
analyses
.
A
7
.
5
-
year
-old
boy
was
admitted
to
Department
of
Pediatrics
,
Chungnam
National
University
Hospital
with
progressive
weakness
of
the
bilateral
lower
extremities
.
Brain
magnetic
resonance
imaging
confirmed
clinically
suspected
ALD
.
A
low
dose
adrenocorticotropic
hormone
stimulation
test
revealed
parital
adrenal
insufficiency
.
His
fasting
plasma
levels
of
VLCFA
showed
that
his
C
2
4
:
0
/
C
2
2
:
0
and
C
2
6
:
0
/
C
2
2
:
0
ratios
were
significantly
elevated
to
1
.
609
(
normal
,
0
-
1
.
390
)
and
0
.
075
(
normal
,
0
-
0
.
023
)
,
respectively
.
Genomic
DNA
was
extracted
from
peripheral
whole
blood
samples
collected
from
the
patient
and
his
family
.
All
exons
of
ABCD
1
gene
were
amplified
by
polymerase
chain
reaction
(
PCR
)
using
specific
primers
.
Amplified
PCR
products
were
sequenced
using
the
same
primer
pairs
according
to
the
manufacturer
's
instructions
.
We
identified
a
missense
mutation
(
p
.
Arg
163
Leu
)
in
the
ABCD
1
gene
of
the
proband
caused
by
the
nucleotide
change
488
G
>
T
in
exon
1
.
His
asymptomatic
mother
carried
the
same
mutation
.
We
have
reported
an
unpublished
mutation
in
the
ABCD
1
gene
in
a
patient
with
X-
ALD
,
who
showed
increased
ratio
of
C
2
4
:
0
/
C
2
2
:
0
and
C
2
6
:
0
/
C
2
2
:
0
,
despite
a
normal
VLCFA
concentrations
.
Diseases
Validation
Diseases presenting
"the adrenal cortex"
symptom
x-linked adrenoleukodystrophy
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