Rare Diseases Symptoms Automatic Extraction
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Biochemical features of a patient with Zellweger-like syndrome with normal PTS-1 and PTS-2 peroxisomal protein import systems: a new peroxisomal disease.
[neonatal adrenoleukodystrophy]
The
peroxisomal
disorders
represent
a
group
of
inherited
metabolic
disorders
that
derive
from
defects
of
peroxisomal
biogenesis
and
/
or
from
dysfunction
of
single
or
multiple
peroxisomal
enzymes
.
We
described
earlier
an
8
1
/
2
year
-old
with
a
history
of
progressive
developmental
delay
,
micronodular
cirrhosis
,
and
elevated
very
long
chain
fatty
acids
in
plasma
and
skin
fibroblasts
.
These
findings
were
felt
to
be
compatible
with
both
neonatal
adrenoleukodystrophy
(
nALD
)
and
Zellweger
syndrome
(
ZS
)
.
This
patient
is
now
21
years
old
and
his
clinical
course
,
inconsistent
with
either
nALD
or
ZS
,
led
us
to
examine
his
peroxisomal
status
in
light
of
a
possible
new
peroxisomal
disease
.
The
normal
levels
of
bile
acid
precursors
found
in
this
patient
suggest
that
peroxisomal
beta
-oxidation
is
functional
.
The
activities
of
dihydroxyacetone
phosphate
acyltransferase
and
oxidation
of
lignoceric
acid
and
phytanic
acid
were
14
,
17
,
and
15
%
of
the
control
,
respectively
.
This
partial
activity
for
oxidation
and
the
normal
levels
of
bile
acid
precursors
suggests
that
this
patient
has
peroxisomes
containing
beta
-oxidation
enzymes
.
Western
blot
analysis
of
subcellular
organelles
showed
that
beta
-oxidation
enzyme
proteins
are
present
at
normal
levels
in
catalase
-negative
peroxisomes
of
density
equivalent
to
normal
peroxisomes
.
The
presence
of
acyl-
CoA
oxidase
and
3
-
ketoacyl-
CoA
thiolase
in
catalase
-negative
peroxisomes
suggests
that
both
peroxisomal
targeting
signal-
1
(
PTS
-
1
)
,
and
peroxisomal
targeting
signal-
2
(
PTS
-
2
)
-
mediated
protein
transport
processes
into
peroxisomes
are
normal
in
this
patient
.
These
findings
of
catalase
-negative
peroxisomes
of
normal
density
and
normal
PTS
-
1
and
PTS
-
2
import
machinery
with
partial
peroxisomal
functions
clearly
demonstrate
that
this
patient
differs
from
those
with
known
disorders
of
peroxisomal
biogenesis
.