Rare Diseases Symptoms Automatic Extraction
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A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.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unpublished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
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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