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Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency.
[zellweger syndrome]
Peroxisomes
are
subcellular
organelles
that
function
in
multiple
anabolic
and
catabolic
processes
,
including
β-oxidation
of
very
-
long
-chain
fatty
acids
(
VLCFA
)
and
biosynthesis
of
ether
phospholipids
.
Peroxisomal
disorders
caused
by
defects
in
peroxisome
biogenesis
or
peroxisomal
β-oxidation
manifest
as
severe
neural
disorders
of
the
central
nervous
system
.
Abnormal
peroxisomal
metabolism
is
thought
to
be
responsible
for
the
clinical
symptoms
of
these
diseases
,
but
their
molecular
pathogenesis
remains
to
be
elucidated
.
We
performed
lipidomic
analysis
to
identify
aberrant
metabolites
in
fibroblasts
from
patients
with
Zellweger
syndrome
(
ZS
)
,
acyl-
CoA
oxidase
1
(
AOx
)
deficiency
,
D-
bifunctional
protein
(
D-
BP
)
and
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
,
as
well
as
in
peroxisome-
deficient
Chinese
hamster
ovary
cell
mutants
.
In
cells
deficient
in
peroxisomal
biogenesis
,
plasmenylethanolamine
was
remarkably
reduced
and
phosphatidylethanolamine
was
increased
.
Marked
accumulation
of
very
-
long
-chain
saturated
fatty
acid
and
monounsaturated
fatty
acids
in
phosphatidylcholine
was
observed
in
all
mutant
cells
.
Very
-
long
-chain
polyunsaturated
fatty
acid
(
VLC-PUFA
)
levels
were
significantly
elevated
,
whilst
phospholipids
containing
docosahexaenoic
acid
(
DHA
,
C
2
2
:
6
n-
3
)
were
reduced
in
fibroblasts
from
patients
with
ZS
,
AOx
deficiency
,
and
D-
BP
deficiency
,
but
not
in
fibroblasts
from
an
X-
ALD
patient
.
Because
patients
with
AOx
deficiency
suffer
from
more
severe
symptoms
than
those
with
X-
ALD
,
accumulation
of
VLC-PUFA
and
/
or
reduction
of
DHA
may
be
associated
with
the
severity
of
peroxisomal
diseases
.
Diseases
Validation
Diseases presenting
"defects in peroxisome biogenesis or peroxisomal β-oxidation"
symptom
x-linked adrenoleukodystrophy
zellweger syndrome
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