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Biochemical markers predicting survival in peroxisome biogenesis disorders.
[neonatal adrenoleukodystrophy]
To
identify
prognostic
markers
reflecting
the
extent
of
peroxisome
dysfunction
in
primary
skin
fibroblasts
from
patients
with
peroxisome
biogenesis
disorders
(
PBD
)
.
PBD
are
a
genetically
heterogeneous
group
of
disorders
due
to
defects
in
at
least
11
distinct
genes
.
Zellweger
syndrome
is
the
prototype
of
this
group
of
disorders
,
with
neonatal
adrenoleukodystrophy
and
infantile
Refsum
disease
as
milder
variants
.
Common
to
these
three
disorders
are
liver
disease
,
variable
neurodevelopmental
delay
,
retinopathy
,
and
perceptive
deafness
.
Because
genotype-phenotype
studies
are
complicated
by
the
genetic
heterogeneity
among
patients
with
PBD
,
the
authors
evaluated
a
series
of
biochemical
markers
as
a
measure
of
peroxisome
dysfunction
in
skin
fibroblasts
.
Multiple
peroxisomal
functions
including
de
novo
plasmalogen
synthesis
,
dihydroxyacetonephosphate
acyltransferase
(
DHAPAT
)
activity
,
C
2
6
:
0
/
C
2
2
:
0
ratio
,
C
2
6
:
0
and
pristanic
acid
beta
-oxidation
,
and
phytanic
acid
alpha-oxidation
were
analyzed
in
fibroblasts
from
a
series
of
patients
with
defined
clinical
phenotypes
.
A
poor
correlation
with
age
at
death
was
found
for
de
novo
plasmalogen
synthesis
,
C
2
6
:
0
/
C
2
2
:
0
ratio
,
and
phytanic
acid
alpha-oxidation
.
A
fairly
good
correlation
was
found
for
pristanic
acid
beta
-oxidation
,
but
the
best
correlation
was
found
for
DHAPAT
activity
and
C
2
6
:
0
beta
-oxidation
.
A
mathematic
combination
of
DHAPAT
activity
and
C
2
6
:
0
beta
-oxidation
showed
an
even
better
correlation
.
DHAPAT
activity
and
C
2
6
:
0
beta
-oxidation
are
the
best
markers
in
predicting
life
expectancy
of
patients
with
PBD
.
Combination
of
both
markers
gives
an
even
better
prediction
.
These
results
contribute
to
the
management
of
patients
with
PBD
.
Diseases
Validation
Diseases presenting
"liver disease"
symptom
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
cholangiocarcinoma
cutaneous mastocytosis
erythropoietic protoporphyria
legionellosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
typhoid
zellweger syndrome
This symptom has already been validated