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Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
[neonatal adrenoleukodystrophy]
Peroxisome
biogenesis
disorders
(
PBDs
)
are
severe
autosomal
recessive
neurological
diseases
caused
by
a
defect
of
peroxisomal
assembly
factors
.
Zellweger
syndrome
,
the
most
severe
phenotype
,
is
characterized
by
hypotonia
,
psychomotor
retardation
and
neuronal
migration
disorder
.
Neonatal
adrenoleukodystrophy
and
infantile
Refsum
disease
are
milder
phenotypes
of
this
disease
.
Thirteen
complementation
groups
have
been
established
since
the
genetic
heterogeneity
of
PBDs
was
elucidated
in
1988
.
Eleven
genes
for
PBDs
have
been
identified
either
by
a
functional
complementation
cloning
or
by
EST
homology
searches
.
In
1992
,
the
first
gene
for
PBDs
,
PEX
2
,
was
identified
.
It
encodes
peroxisomal
integral
membrane
protein
with
a
RING
finger
domain
.
PEX
5
and
PEX
7
are
the
genes
for
peroxisomal
targeting
signal
(
PTS
)
-
1
and
-
2
receptors
,
respectively
.
PEX
3
,
PEX
16
and
PEX
19
are
considered
to
be
required
for
the
early
stage
of
peroxisome
biogenesis
.
PEX
13
protein
has
an
SH
3
docking
site
that
binds
to
the
PTS
-
1
receptor
.
PEX
1
and
PEX
6
encode
ABC
protein
,
and
PEX
10
and
PEX
12
also
encode
integral
membrane
protein
,
with
RING
finger
.
Temperature-sensitivity
,
whereby
peroxisomal
biogenesis
and
metabolic
dysfunctions
are
restored
at
30
degrees
C
in
cells
from
mild
phenotypes
,
is
a
useful
event
for
predicting
the
clinical
severity
and
for
elucidation
of
peroxisome
biogenesis
.
Investigations
using
knockout
mice
are
expected
to
facilitate
understanding
of
migration
disorders
.
Diseases
Validation
Diseases presenting
"recessive neurological diseases"
symptom
neonatal adrenoleukodystrophy
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