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Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.
[neonatal adrenoleukodystrophy]
The
assay
of
plasma
very
long
chain
fatty
acids
(
VLCFAs
)
,
developed
in
our
laboratory
in
1981
,
has
become
the
most
widely
used
procedure
for
the
diagnosis
of
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
and
other
peroxisomal
disorders
.
We
present
here
our
17
years
'
experience
with
this
assay
.
Three
VLCFA
parameters
,
the
level
of
hexacosanoic
acid
(
C
2
6
:
0
)
,
the
ratio
of
C
2
6
:
0
to
tetracosanoic
acid
(
C
2
4
:
0
)
,
and
of
C
2
6
:
0
to
docosanoic
acid
(
C
2
2
:
0
)
,
were
measured
in
1
,
097
males
(
hemizygotes
)
with
X-
ALD
,
1
,
282
women
heterozygous
for
this
disorder
,
including
379
obligate
heterozygotes
,
797
patients
with
other
peroxisomal
disorders
,
and
29
,
600
control
subjects
.
All
X-
ALD
hemizygotes
who
had
not
previously
received
Lorenzo
's
oil
or
a
diet
with
a
high
erucic
acid
content
had
increased
VLCFA
levels
,
but
the
application
of
a
discriminant
function
based
on
all
three
measurements
is
required
to
avoid
the
serious
consequences
of
a
false-negative
result
.
VLCFA
levels
are
increased
at
day
of
birth
,
thus
providing
the
potential
for
neonatal
mass
screening
,
are
identical
in
the
childhood
and
adult
forms
,
and
do
not
change
with
age
.
Eighty
-
five
percent
of
obligate
heterozygotes
had
abnormally
high
VLCFA
levels
,
but
a
normal
result
does
not
exclude
carrier
status
.
VLCFA
levels
were
increased
in
all
patients
homozygous
for
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
infantile
Refsum
's
disease
,
and
in
patients
with
deficiencies
of
peroxisomal
acyl-coenzyme
A
oxidase
,
bifunctional
enzyme
,
and
3
-
oxoacyl-coenzyme
A
thiolase
.
In
these
patients
the
degree
of
VLCFA
excess
correlated
with
clinical
severity
.
Diseases
Validation
Diseases presenting
"used procedure for the diagnosis"
symptom
neonatal adrenoleukodystrophy
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