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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
.
Diseases
Validation
Diseases presenting
"skin fibroblasts"
symptom
child syndrome
cowden syndrome
cystinuria
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
krabbe disease
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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