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Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.
[neonatal adrenoleukodystrophy]
The
presence
of
peroxisomal
membrane
ghosts
was
examined
in
liver
biopsies
from
eleven
patients
presenting
the
clinical
and
biochemical
picture
of
a
generalized
peroxisomal
disorder
(
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
infantile
Refsum
disease
and
variants
of
these
syndromes
)
.
A
polyclonal
antibody
raised
against
the
membrane
of
human
liver
peroxisomes
and
recognizing
a
43
kDa
peroxisomal
membrane
protein
(
PMP
)
was
used
.
In
human
control
liver
the
antibodies
react
in
a
distinct
and
specific
way
with
the
peroxisomal
membrane
.
Two
types
of
organelles
with
an
immunoreactive
membrane
were
identified
in
the
liver
parenchymal
cells
of
the
patients
:
organelles
containing
an
electron-
dense
core
and
organelles
with
electron
transparent
contents
.
Both
types
may
co
-occur
in
the
same
patient
;
in
two
patients
they
were
found
in
the
same
cell
.
The
organelles
are
rare
,
and
their
number
varies
between
patients
.
The
first
type
possibly
corresponds
to
the
previous
morphological
description
of
aberrant
peroxisomes
in
the
liver
of
patients
with
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
and
infantile
Refsum
disease
.
The
empty
looking
organelles
have
not
been
reported
previously
in
the
liver
,
some
of
the
"
empty
"
organelles
seem
to
be
enclosed
by
a
double
membrane
.
Morphometrical
analysis
in
three
patients
indicated
that
both
types
of
organelles
(
corrected
mean
d-circle
0
.
271
-
0
.
306
micron
for
the
"
empty
"
and
the
dense
core
organelles
,
respectively
)
are
smaller
than
the
peroxisomes
in
postnatal
control
liver
and
in
fetal
liver
.
In
one
patient
(
infantile
Refsum
disease
)
immunoreactive
organelles
were
not
detected
.
The
organelles
with
the
electron-
dense
core
were
not
found
in
two
patients
.
(
ABSTRACT
TRUNCATED
AT
250
WORDS
)
Diseases
Validation
Diseases presenting
"recognizing a 43 kda peroxisomal membrane protein"
symptom
neonatal adrenoleukodystrophy
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