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[Liver pathologies due to peroxisome disorders].
[neonatal adrenoleukodystrophy]
Peroxisomes
or
microbodies
are
peculiar
subcellular
organelles
with
an
important
role
in
the
metabolism
of
a
variety
of
different
organic
compounds
.
Particularly
they
are
an
important
site
of
bile
acids
synthesis
.
Some
hepatic
diseases
,
mainly
cholestatic
,
can
to
be
reconnected
at
disorders
of
bile
acids
synthesis
by
these
organelles
.
From
the
biochemical
point
some
diseases
present
alterations
of
the
cholesterol
side
chain
(
Zellweger
syndrome
,
pseudo-
Zellweger
syndrome
,
infantile
Refsum
's
disease
,
neonatal
adrenoleukodystrophy
)
,
other
diseases
present
errors
involving
the
steroid
nucleus
(
familial
giant
cell
hepatitis
)
.
Zellweger
disease
or
cerebro-hepato-
renal
syndrome
is
characterized
clinically
by
skeletal
changes
,
muscle
hypotonia
,
renal
cysts
,
psychosomatic
retardation
and
persistent
cholestasis
and
from
the
ultrastructural
standpoint
by
the
virtual
absence
of
liver
cell
peroxisomes
.
Pseudo-
Zellweger
disease
shows
many
of
the
clinical
features
of
Zellweger
disease
but
differs
from
this
condition
on
account
of
the
presence
of
abundant
peroxisomes
in
the
liver
cells
.
Infantile
Refsum
's
disease
and
neonatal
adrenoleukodystrophy
show
typical
clinical
disorders
and
liver
damage
leading
to
cirrhosis
.
"
Familial
giant
cell
hepatitis
"
is
characterized
by
jaundice
from
the
first
days
of
life
,
hepatosplenomegaly
,
cholestasis
,
lack
of
physical
malformations
.
The
disorder
is
due
to
defective
biosynthesis
of
the
bile
acids
with
formation
of
allo-bile
acids
.
Diseases
Validation
Diseases presenting
"liver damage leading to cirrhosis"
symptom
neonatal adrenoleukodystrophy
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