Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Peroxisomal hereditary metabolic disorders].
[neonatal adrenoleukodystrophy]
Metabolic
function
of
peroxisomes
includes
oxidation
of
wide
spectrum
of
substances
in
the
presence
of
oxygen
.
Hydrogen
peroxide
formed
at
the
same
time
is
either
degraded
by
catalase
or
further
utilized
in
peroxidative
reactions
.
From
the
view
of
cellular
pathology
,
the
most
important
becomes
alpha
and
beta
-oxidation
of
carboxylic
acids
,
particularly
beta
-oxidation
of
long
-chain
carboxylic
acids
,
which
undergoes
selectively
in
peroxisomes
.
Mutations
of
peroxisomal
genes
result
in
serious
metabolic
disorders
.
At
present
about
twenty
hereditary
peroxisomal
diseases
has
been
described
.
One
group
of
them
includes
generalized
forms
(
impairment
of
peroxisome
biogenesis
)
;
diseases
of
other
group
result
from
isolated
defects
of
individual
peroxisomal
enzymes
.
Combined
incidence
of
peroxisomal
hereditary
disorders
in
the
Western
Europe
is
estimated
to
be
1
:
10
,
000
.
Beside
the
X-
linked
adrenoleukodystrophy
,
all
others
have
the
autosomal-recessive
type
of
heredity
.
In
phenotypic
manifestation
of
generalized
forms
,
as
in
the
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
infantile
Refsum
disease
,
rhizomelic
chondrodysplasia
punctata
,
an
impairment
of
the
central
nervous
system
,
liver
,
and
kidney
dominate
.
Most
of
the
patients
die
within
one
year
,
survival
period
longer
than
three
years
becomes
exceptional
.
X-
adrenoleukodystrophy
,
pseudoneonatal
adrenoleukodystrophy
,
trifunctional
enzyme
deficiency
,
Refsum
disease
,
primary
hyperoxaluria
,
acatalasemia
result
from
the
deficiency
of
a
single
enzyme
.
The
most
frequent
peroxiosomal
hereditary
disease
,
the
X-
adrenoleukodystrophy
,
has
several
clinical
phenotypes
,
which
most
frequently
manifest
already
in
infants
.
The
disease
has
also
a
clinically
less
serious
form
,
which
manifest
only
in
adults--the
adrenomyeloneuropathy
.
For
the
postnatal
but
also
for
the
prenatal
diagnostics
,
methods
of
biochemistry
,
molecular
genetics
,
morphology
,
and
immunocytochemistry
are
necessary
.
Diseases
Validation
Diseases presenting
"which most frequently manifest already in infants"
symptom
neonatal adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom