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[Peroxisomal hereditary diseases].
[neonatal adrenoleukodystrophy]
Nearly
two
tens
of
diseases
are
known
to
be
caused
by
impairment
of
several
metabolic
functions
of
peroxisomes
,
or
by
deficiency
in
individual
peroxisomal
enzymes
.
With
the
exception
of
X-
bound
adrenoleukodystrophy
,
all
diseases
are
based
on
autosomally
recessive
type
of
inheritance
and
a
majority
of
them
are
characteristic
by
specific
neurologic
symptoms
.
The
group
of
diseases
in
which
patients
develop
a
generalised
loss
of
peroxisomal
functions
includes
:
Zellweger
's
cerebro-hepato-
renal
syndrome
,
neonatal
adrenoleukodystrophy
,
infantile
Refsum
's
disease
,
hyperpipecolic
acidaemia
.
Other
diseases
,
such
as
rhizomelic
chondrodysplasia
punctata
and
Zellweger-like
syndrome
are
accompanied
by
a
deficiency
in
several
enzymatic
activities
.
X-
bound
adrenoleukodystrophy
,
pseudo-
Zellweger
's
syndrome
,
hyperoxaluria
1
,
adult
form
of
Refsum
's
disease
and
acatalasaemia
are
peroxisomal
diseases
with
a
deficiency
of
a
single
enzyme
.
In
clinically
most
severe
diseases
(
generalised
loss
of
peroxisomal
functions
)
,
the
impairment
of
peroxisomal
biogenesis
is
caused
assumedly
due
to
the
defect
in
some
of
the
peroxisomal
membrane
proteins
.
The
biochemical
findings
are
brought
about
by
insufficiency
in
such
metabolic
functions
as
oxidation
of
fatty
acids
with
very
long
chains
,
oxidation
of
the
phytanic
and
pipecolic
acids
,
synthesis
of
cholesterol
,
bile
salts
and
plasmalogenes
.
Rhizomelic
chondrodysplasia
punctata
and
Zellweger
's
syndrome
are
more
moderate
forms
which
are
dominantly
biochemically
manifestant
by
an
impairment
in
the
synthesis
of
plasmalogenes
.
Among
the
diseases
characterised
by
a
deficiency
in
individual
peroxisomal
enzymes
,
most
frequent
is
the
X-
bound
andrenoleukodystrophy
which
has
several
clinical
phenotypes
manifestant
in
childhood
,
as
well
as
a
clinically
less
severe
form
manifestant
in
adulthood-
adrenomyeloneuropathy
.
The
diagnosis
of
peroxisomal
diseases
is
performed
by
use
of
a
wide
range
of
methods
(
morphological
,
biochemical
,
immunochemical
and
molecular
genetic
examinations
)
which
enable
both
postnatal
and
prenatal
diagnostics
.
(
Tab
.
1
,
Ref
.
104
.
)
Diseases
Validation
Diseases presenting
"impairment of several metabolic functions of peroxisomes"
symptom
neonatal adrenoleukodystrophy
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