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[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
"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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