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[Peroxisomal diseases--a survey].
[neonatal adrenoleukodystrophy]
Peroxisomes
are
ubiquitous
cytoplasmic
structures
in
mammalian
tissues
.
The
metabolic
functions
of
these
organelles
include
synthesis
of
plasmalogens
and
other
ether
lipids
,
beta
-oxidation
,
especially
of
very
long
-chain
fatty
acids
(
VLCFAs
,
>
C
2
2
)
and
their
derivatives
,
inactivation
of
hydrogen
peroxide
by
peroxisomal
catalase
and
involvement
in
several
other
metabolic
pathways
,
e
.
g
.
gluconeogenesis
,
catabolism
of
purines
and
polyamines
and
detoxification
of
ethanol
.
Peroxisomal
diseases
which
may
arise
from
genetic
faults
in
the
biogenesis
of
the
organelle
or
aberrant
targeting
of
one
or
more
proteins
to
the
peroxisome
,
are
divided
into
three
groups
based
on
the
extent
of
loss
of
peroxisomal
functions
.
Prototype
of
the
first
group
is
the
cerebro-hepato-
renal
syndrome
of
Zellweger
(
ZS
)
which
shows
generalised
loss
of
peroxisomal
functions
and
absence
of
demonstrable
mature
peroxisomes
in
the
liver
.
Other
syndromes
which
are
briefly
discussed
include
neonatal
adrenoleukodystrophy
(
NALD
)
and
infantile
Refsum
syndrome
(
IRS
)
which
may
be
regarded
as
milder
variants
of
ZS
,
and
diseases
caused
by
loss
of
a
limited
number
of
peroxisomal
functions
(
rhizomelic
chondrodysplasia
punctate
)
.
However
,
the
group
of
peroxisomal
diseases
with
the
highest
incidence
are
those
syndromes
where
only
a
single
peroxisomal
function
is
impaired
.
The
most
common
peroxisomal
disease
,
X-
linked
adrenoleukodystrophy
(
XALD
)
belongs
to
this
group
.
XALD
develops
as
a
result
of
an
isolated
defect
of
peroxisomal
acyl-
CoA
synthetase
with
resultant
accumulation
of
VLCFAs
,
especially
C
2
6
:
0
.
Primary
hyperoxaluria
type
1
is
caused
by
deficient
activity
of
peroxisomal
alanine
:
glyoxylate
aminotransferase
due
to
aberrant
targeting
of
this
enzyme
to
mitochondria
and
not
peroxisomes
,
a
unique
example
of
a
genetic
enzyme
trafficking
defect
.
The
primary
diagnosis
of
these
syndromes
is
usually
based
on
clinical
findings
and
measurement
of
accumulated
or
depleted
metabolites
in
the
body
e
.
g
.
VLCFAs
,
bile
acid
intermediates
,
phytanic
acid
,
pipecolic
acid
and
plasmalogens
.
Therapy
includes
dietary
adjustments
e
.
g
.
supplementation
with
oleic
acid
derivatives
to
normalise
elevated
VLCFAs
in
XALD
.
Treatment
with
hypolipidaemic
drugs
and
certain
peroxisomal
substrates
which
induce
proliferation
of
mature
peroxisomes
offers
promise
in
the
therapy
of
these
debilitating
and
often
fatal
diseases
.
Diseases
Validation
Diseases presenting
"depleted metabolites in the body"
symptom
neonatal adrenoleukodystrophy
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