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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
"e"
symptom
allergic bronchopulmonary aspergillosis
aromatase deficiency
cadasil
child syndrome
dracunculiasis
gm1 gangliosidosis
inclusion body myositis
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
pleomorphic liposarcoma
pyomyositis
trochlear dysplasia
wolf-hirschhorn syndrome
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