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Peroxisomal disorders.
[neonatal adrenoleukodystrophy]
The
peroxisomal
disorders
represent
a
group
of
genetic
diseases
in
man
in
which
there
is
an
impairment
in
one
or
more
peroxisomal
functions
.
The
peroxisomal
disorders
are
subdivided
into
three
subgroups
comprising
:
(
1
)
the
peroxisome
biogenesis
disorders
(
PBDs
)
;
(
2
)
the
single
peroxisomal
(
enzyme-
)
protein
deficiencies
;
and
(
3
)
the
single
peroxisomal
substrate
transport
deficiencies
.
The
PBD
group
comprises
four
different
disorders
that
include
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
infantile
Refsum
disease
(
IRD
)
,
and
rhizomelic
chondrodysplasia
punctata
(
RCDP
)
.
ZS
,
NALD
,
and
IRD
are
clearly
distinct
from
RCDP
and
are
usually
referred
to
as
the
Zellweger
spectrum
with
ZS
being
the
most
severe
,
and
IRD
the
less
severe
disorder
,
with
sometimes
onset
in
adulthood
.
The
single
peroxisomal
enzyme
deficiency
group
comprises
seven
different
disorders
,
of
which
D-
bifunctional
protein
and
phytanoyl-
CoA
hydroxylase
(
adult
Refsum
disease
)
deficiencies
are
the
most
frequent
.
The
single
peroxisomal
substrate
transport
deficiency
group
consists
of
only
one
disease
,
X-
linked
adrenoleukodystrophy
.
It
is
the
purpose
of
this
chapter
to
describe
the
current
state
of
knowledge
about
the
clinical
,
biochemical
,
cellular
,
and
molecular
aspects
of
peroxisomal
diseases
,
and
to
provide
guidelines
for
their
post-
and
prenatal
diagnosis
.
Therapeutic
interventions
are
mostly
limited
to
X-
linked
adrenoleukodystrophy
.
Diseases
Validation
Diseases presenting
"single peroxisomal"
symptom
neonatal adrenoleukodystrophy
x-linked adrenoleukodystrophy
zellweger syndrome
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