Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Lactate oxidation for the detection of mitochondrial dysfunction in human skin fibroblasts.
[neonatal adrenoleukodystrophy]
To
screen
fibroblasts
for
defects
in
lactate
/
pyruvate
oxidation
,
cells
were
grown
to
confluence
in
25
-
cm
2
flasks
,
rinsed
,
and
incubated
in
glucose-free
media
containing
25
microM
L-
lactate
and
0
.
1
microCi
[
D
,
L-
1
-
14
C
]
lactate
.
Lactate
oxidation
was
measured
as
the
amount
of
lactate
oxidized
in
nmol
of
14
CO
2
generated
/
mg
protein
/
min
.
Fibroblasts
from
patients
with
mitochondrial
or
peroxisomal
disorders
had
decreased
lactate
oxidation
compared
to
the
control
(
CON
)
:
CON
,
1
.
9
+
/
-
0
.
13
nmol
/
mg
/
min
;
neonatal
adrenoleukodystrophy
(
NALD
)
,
0
.
45
+
/
-
0
.
01
(
P
<
0
.
001
)
;
rhizomelic
chondrodysplasia
punctata
(
RCDP
)
,
0
.
13
+
/
-
0
.
002
(
P
<
0
.
001
)
;
mitochondrial
defect
of
unknown
etiology
(
MIT
)
,
0
.
77
+
/
-
0
.
003
(
P
<
0
.
001
)
;
pyruvate
dehydrogenase
(
PDH
)
deficiency
,
0
.
98
+
/
-
0
.
02
(
P
<
0
.
001
)
.
This
method
is
useful
for
screening
fibroblasts
for
defects
in
lactate
oxidation
in
patients
with
mitochondrial
or
peroxisomal
disorders
.
Confirmation
of
the
site
of
the
defect
may
then
be
investigated
with
specific
assays
,
e
.
g
.
,
PDH
,
in
cellular
homogenates
:
CON
,
0
.
93
+
/
-
0
.
02
nmol
/
mg
/
min
;
NALD
,
0
.
55
+
/
-
0
.
02
;
RCDP
,
0
.
44
+
/
-
0
.
02
;
MIT
,
0
.
53
+
/
-
0
.
03
;
PDH
deficiency
,
0
.
19
+
/
-
0
.
02
.
Diseases
Validation
Diseases presenting
"specific assays"
symptom
neonatal adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom