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[Clinical and molecular aspects of peroxisome-deficient disorders].
[neonatal adrenoleukodystrophy]
Peroxisome-
deficient
disorders
including
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
and
infantile
Refsum
disease
(
IRD
)
are
characterized
by
the
absence
of
peroxisomes
associated
with
secondary
multiple
enzyme
deficiencies
and
by
a
defect
in
the
neuronal
migration
.
Collaborative
complementation
studies
revealed
the
presence
of
at
least
9
genetic
groups
among
these
disorders
.
Clinical
phenotypes
did
not
correlate
with
the
genetic
grouping
.
Responsible
gene
for
one
of
these
groups
(
group
F
)
was
determined
as
peroxisome
assembly
factor
-
1
(
PAF
-
1
)
by
the
functional
cloning
using
peroxisome-
deficient
CHO
cell
mutant
.
A
patient
of
group
F
was
a
homozygote
with
C
to
T
transitions
in
PAF
-
1
gene
which
resulted
in
a
nonsense
mutation
.
These
results
will
pave
the
way
for
the
elucidation
of
mechanisms
of
peroxisome
biogenesis
and
the
pathophysiology
of
neuronal
migration
.
Diseases
Validation
Diseases presenting
"absence of peroxisomes"
symptom
neonatal adrenoleukodystrophy
zellweger syndrome
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