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Peroxisomal disorders.
[x-linked 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
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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