Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"severe disorders"
symptom
gm1 gangliosidosis
neonatal adrenoleukodystrophy
phenylketonuria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom