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Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
[neonatal adrenoleukodystrophy]
The
peroxisomal
disorders
represent
a
group
of
genetic
diseases
in
humans
in
which
there
is
an
impairment
in
one
or
more
peroxisomal
functions
.
The
peroxisomal
disorders
are
usually
subdivided
into
two
subgroups
including
(
i
)
the
peroxisome
biogenesis
disorders
(
PBDs
)
and
(
ii
)
the
single
peroxisomal
(
enzyme-
)
protein
deficiencies
.
The
PBD
group
is
comprised
of
four
different
disorders
including
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
infantile
Refsum
's
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
NALD
and
IRD
the
less
severe
disorders
.
Studies
in
the
late
1980
s
had
already
shown
that
the
PBD
group
is
genetically
heterogeneous
with
at
least
12
distinct
genetic
groups
as
concluded
from
complementation
studies
.
Thanks
to
the
much
improved
knowledge
about
peroxisome
biogenesis
notably
in
yeasts
and
the
successful
extrapolation
of
this
knowledge
to
humans
,
the
genes
responsible
for
all
these
complementation
groups
have
been
identified
making
molecular
diagnosis
of
PBD
patients
feasible
now
.
It
is
the
purpose
of
this
review
to
describe
the
current
stage
of
knowledge
about
the
clinical
,
biochemical
,
cellular
,
and
molecular
aspects
of
PBDs
,
and
to
provide
guidelines
for
the
post-
and
prenatal
diagnosis
of
PBDs
.
Less
progress
has
been
made
with
respect
to
the
pathophysiology
and
therapy
of
PBDs
.
The
increasing
availability
of
mouse
models
for
these
disorders
is
a
major
step
forward
in
this
respect
.
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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