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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
"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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