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X-linked adrenoleukodystrophy.
[adrenomyeloneuropathy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
caused
by
a
defect
in
the
gene
ABCD
1
,
which
maps
to
Xq
28
and
codes
for
a
peroxisomal
membrane
protein
that
is
a
member
of
the
ATP-binding
cassette
transporter
superfamily
.
X-
ALD
is
panethnic
and
affects
approximately
1
:
20
,
000
males
.
Phenotypes
include
the
rapidly
progressive
childhood
,
adolescent
,
and
adult
cerebral
forms
;
adrenomyeloneuropathy
,
which
presents
as
slowly
progressive
paraparesis
in
adults
;
and
Addison
disease
without
neurologic
manifestations
.
These
phenotypes
are
frequently
misdiagnosed
,
respectively
,
as
attention
-deficit
hyperactivity
disorder
(
ADHD
)
,
multiple
sclerosis
,
or
idiopathic
Addison
disease
.
Approximately
50
%
of
female
carriers
develop
a
spastic
paraparesis
secondary
to
myelopathic
changes
similar
to
adrenomyeloneuropathy
.
Assays
of
very
long
chain
fatty
acids
in
plasma
,
cultured
chorion
villus
cells
and
amniocytes
,
and
mutation
analysis
permit
presymptomatic
and
prenatal
diagnosis
,
as
well
as
carrier
identification
.
The
timely
use
of
these
assays
is
essential
for
genetic
counseling
and
therapy
.
Early
diagnosis
and
treatment
can
prevent
overt
Addison
disease
,
and
significantly
reduce
the
frequency
of
the
severe
childhood
cerebral
phenotype
.
A
promising
new
method
for
mass
newborn
screening
has
been
developed
,
the
implementation
of
which
will
have
a
profound
effect
on
the
diagnosis
and
therapy
of
X-
ALD
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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