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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
the
most
common
peroxisomal
disorder
.
The
disease
is
caused
by
mutations
in
the
ABCD
1
gene
that
encodes
the
peroxisomal
membrane
protein
ALDP
which
is
involved
in
the
transmembrane
transport
of
very
long
-chain
fatty
acids
(
VLCFA
;
≥
C
2
2
)
.
A
defect
in
ALDP
results
in
elevated
levels
of
VLCFA
in
plasma
and
tissues
.
The
clinical
spectrum
in
males
with
X-
ALD
ranges
from
isolated
adrenocortical
insufficiency
and
slowly
progressive
myelopathy
to
devastating
cerebral
demyelination
.
The
majority
of
heterozygous
females
will
develop
symptoms
by
the
age
of
60
years
.
In
individual
patients
the
disease
course
remains
unpredictable
.
This
review
focuses
on
the
diagnosis
and
management
of
patients
with
X-
ALD
and
provides
a
guideline
for
clinicians
that
encounter
patients
with
this
highly
complex
disorder
.