Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Increase of ceramide monohexoside and dipalmitoyl glycerophospholipids in the brain of Zellweger syndrome.
[zellweger syndrome]
The
lipid
composition
and
molecular
species
of
phospholipids
were
examined
in
the
brain
of
a
patient
with
Zellweger
syndrome
(
ZS
)
,
and
were
compared
with
those
of
control
infants
.
In
the
cerebral
gray
matter
of
the
ZS
patient
,
the
amounts
of
ceramide
monohexoside
and
cholesterol
ester
were
larger
than
those
of
controls
.
By
contrast
,
the
amount
of
ceramide
monohexoside
in
the
white
matter
was
smaller
in
the
ZS
patient
than
that
in
the
age-matched
control
.
Although
the
amount
of
phosphatidylcholine
(
PC
)
plus
phosphatidylserine
(
PS
)
was
the
same
,
dipalmitoyl
PC
and
PS
were
increased
in
both
the
gray
and
white
matter
of
the
ZS
cerebrum
.
These
alterations
in
the
molecular
species
of
brain
lipids
may
play
crucial
roles
in
the
pathogenesis
of
ZS
.
Diseases
Validation
Diseases presenting
"white matter"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom