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Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans.
[neonatal adrenoleukodystrophy]
We
have
found
that
peroxisome
assembly
is
temperature-sensitive
(
ts
)
in
mild
forms
of
peroxisome
biogenesis
disorders
(
PBDs
)
,
that
is
all
infantile
Refsum
disease
(
IRD
)
patients
and
a
few
neonatal
adrenoleukodystrophy
patients
of
several
complementation
groups
.
The
number
of
peroxisomes
increased
daily
in
incubation
at
30
degrees
C
in
the
ts
cells
.
Oxidation
of
very
long
-chain
fatty
acids
,
processing
of
acyl-
CoA
oxidase
and
dihydroxyacetonephosphate
acyltransferase
activity
also
improved
after
8
days
incubation
at
30
degrees
C
in
the
IRD
fibroblasts
.
These
biochemical
functions
of
the
peroxisome
did
not
change
at
30
degrees
C
in
Zellweger
fibroblasts
.
Number
of
peroxisomes
gradually
decreased
after
4
days
when
the
temperature
shifted
from
30
to
37
degrees
C
in
the
ts
cells
.
These
results
indicate
that
the
biochemical
functions
of
peroxisome
are
also
restored
by
incubation
at
30
degrees
C
in
the
mild
and
ts
phenotype
of
PBDs
,
and
the
results
will
aid
to
predict
the
severity
and
the
prognosis
of
affected
children
.
Diseases
Validation
Diseases presenting
"increased daily in incubation at 30 degrees"
symptom
neonatal adrenoleukodystrophy
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