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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
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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