Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Peroxisome biogenesis disorders.
[zellweger syndrome]
Defects
in
PEX
genes
impair
peroxisome
assembly
and
multiple
metabolic
pathways
confined
to
this
organelle
,
thus
providing
the
biochemical
and
molecular
bases
of
the
peroxisome
biogenesis
disorders
(
PBD
)
.
PBD
are
divided
into
two
types--
Zellweger
syndrome
spectrum
(
ZSS
)
and
rhizomelic
chondrodysplasia
punctata
(
RCDP
)
.
Biochemical
studies
performed
in
blood
and
urine
are
used
to
screen
for
the
PBD
.
DNA
testing
is
possible
for
all
of
the
disorders
,
but
is
more
challenging
for
the
ZSS
since
12
PEX
genes
are
known
to
be
associated
with
this
spectrum
of
PBD
.
In
contrast
,
PBD-
RCDP
is
associated
with
defects
in
the
PEX
7
gene
alone
.
Studies
of
the
cellular
and
molecular
defects
in
PBD
patients
have
contributed
significantly
to
our
understanding
of
the
role
of
each
PEX
gene
in
peroxisome
assembly
.