Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"psychomotor retardation"
symptom
alexander disease
aniridia
canavan disease
cohen syndrome
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated