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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
"wide range"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
congenital toxoplasmosis
cowden syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
fabry disease
gm1 gangliosidosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pendred syndrome
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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