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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
"e"
symptom
allergic bronchopulmonary aspergillosis
aromatase deficiency
cadasil
child syndrome
dracunculiasis
gm1 gangliosidosis
inclusion body myositis
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
pleomorphic liposarcoma
pyomyositis
trochlear dysplasia
wolf-hirschhorn syndrome
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