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X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
[adrenomyeloneuropathy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
the
most
frequent
peroxisomal
disease
.
The
two
main
clinical
phenotypes
of
X-
ALD
are
adrenomyeloneuropathy
(
AMN
)
and
inflammatory
cerebral
ALD
that
manifests
either
in
children
or
more
rarely
in
adults
.
About
65
%
of
heterozygote
females
develop
symptoms
by
the
age
of
60
years
.
Mutations
in
the
ABCD
1
gene
affect
the
function
of
the
encoded
protein
ALDP
,
an
ATP-binding-cassette
(
ABC
)
transporter
located
in
the
peroxisomal
membrane
protein
.
ALDP
deficiency
impairs
the
peroxisomal
beta
-oxidation
of
very
long
-chain
fatty
acids
(
VLCFA
)
and
facilitates
their
further
chain
elongation
by
ELOVL
1
resulting
in
accumulation
of
VLCFA
in
plasma
and
tissues
.
While
all
patients
have
mutations
in
the
ABCD
1
gene
,
there
is
no
general
genotype-phenotype
correlation
.
Environmental
factors
and
a
multitude
of
modifying
genes
appear
to
determine
the
clinical
manifestation
in
this
monogenetic
but
multifactorial
disease
.
This
review
focuses
on
the
clinical
,
biochemical
,
genetic
and
pathophysiological
aspects
of
X-
ALD
.
