Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Diagnosis of peroxisomal disorders with neurological involvement.
[neonatal adrenoleukodystrophy]
Peroxisomal
disorders
are
a
group
of
inherited
metabolic
diseases
caused
by
impairment
of
one
or
more
peroxisomal
functions
.
Ten
disorders
with
neurological
involvement
have
been
recognized
.
Diagnosis
and
differentiation
of
these
disorders
is
based
on
a
number
of
important
biochemical
markers
.
For
all
disorders
elevated
values
of
very
long
chain
fatty
acids
(
VLCFA
)
and
/
or
phytanic
acid
(
PHYT
)
are
important
primary
diagnostic
parameters
.
Our
results
with
regard
to
these
two
diagnostic
markers
are
presented
.
VLCFA
determined
by
gaschromatography
in
414
samples
(
plasma
,
leukocytes
or
fibroblasts
respectively
)
revealed
increased
values
of
hexacosanoic
acid
in
30
hemizygotes
and
10
heterozygotes
of
adrenoleukodystrophy
/
adrenomyeloneuropathy
and
in
eight
infants
with
Zellweger
disease
or
neonatal
adrenoleukodystrophy
.
15
cases
with
peroxisomal
disorders
were
detected
by
VLCFA
analysis
in
autopsy
material
.
Gaschromatographic
analysis
of
PHYT
in
plasma
showed
in
some
patients
with
Zellweger
disease
or
neonatal
adrenoleukodystrophy
increase
.
In
seven
Refsum
patients
beside
gaschromatographic
demonstration
of
PHYT
accumulation
in
plasma
,
analysis
of
plasma
phytanyltriglycerides
by
thin
-layer
chromatography
proved
to
be
a
rapid
and
reliable
method
for
detection
of
patients
and
monitoring
dietary
treatment
.
