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Genotype-phenotype correlations in disorders of peroxisome biogenesis.
[neonatal adrenoleukodystrophy]
Genetically
determined
human
peroxisomal
disorders
are
subdivided
into
two
major
categories
:
disorders
of
peroxisome
biogenesis
(
PBD
)
,
in
which
the
organelle
is
not
formed
normally
,
and
those
that
involve
a
single
peroxisomal
enzyme
.
Twelve
PBD
have
been
identified
,
and
the
molecular
defects
have
been
defined
in
10
.
All
involve
defects
in
the
import
of
proteins
into
the
organelle
.
Factors
required
for
this
import
are
now
referred
to
as
peroxins
(
PEX
)
and
form
the
basis
of
a
new
and
preferred
classification
system
.
The
PBD
are
associated
with
four
clinical
phenotypes
,
named
before
their
association
with
the
organelle
was
recognized
:
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
infantile
Refsum
disease
(
IRD
)
,
and
rhizomelic
chondrodysplasia
punctata
(
RCDP
)
.
The
first
three
are
associated
with
9
of
the
10
PEX
defects
that
have
been
defined
so
far
,
and
represent
a
clinical
continuum
with
variant
severity
,
with
ZS
the
most
severe
,
NALD
intermediate
,
and
IRD
the
least
severe
.
RCDP
is
associated
with
PEX
7
.
Genotype-phenotype
correlations
are
complicated
by
the
fact
that
the
clinical
manifestations
of
the
ZS
-
NALD
-
IRD
continuum
can
be
mimicked
by
disorders
that
affect
single
enzymes
of
peroxisomal
fatty
acid
oxidation
,
and
PEX
7
by
disorders
of
plasmalogen
synthesis
enzymes
.
Furthermore
,
clinical
manifestations
of
each
of
the
PEX
disorders
may
vary
.
Phenotypic
expression
varies
with
the
nature
of
the
mutation
,
the
milder
phenotypes
being
associated
with
mutations
that
do
not
abolish
function
completely
,
or
with
mosaicism
.
Definition
of
the
molecular
defects
is
of
great
value
for
genetic
counseling
and
may
be
of
aid
in
establishing
prognosis
.
Diseases
Validation
Diseases presenting
"single peroxisomal enzyme"
symptom
neonatal adrenoleukodystrophy
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