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Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders.
[neonatal adrenoleukodystrophy]
Mitochondrial
myopathies
and
defects
in
oxidative
phosphorylation
have
been
described
in
some
patients
with
peroxisomal
disorders
.
Although
peroxisomes
and
mitochondria
play
a
role
in
the
beta
-oxidation
of
fatty
acids
,
the
metabolic
interactions
between
the
two
are
not
well
defined
.
Defects
in
peroxisomal
beta
-oxidation
are
associated
with
extracellular
accumulation
of
very
long
-chain
fatty
acids
and
may
be
accompanied
by
alterations
in
the
intracellular
pool
of
fatty
acyl-
CoAs
,
which
are
known
to
alter
mitochondrial
function
.
This
study
was
initiated
to
examine
alterations
in
the
intracellular
pool
of
acyl-
CoAs
and
mitochondrial
function
in
two
children
with
generalized
disorders
of
peroxisomal
function
and
clinical
lactic
/
pyruvic
acidaemia
.
Fibroblasts
were
cultured
from
skin
biopsies
obtained
from
one
child
with
neonatal
adrenoleukodystrophy
(
NALD
)
and
another
with
rhizomelic
chondrodysplasia
punctata
(
RCDP
)
.
Fibroblast
lactate
oxidation
was
significantly
inhibited
in
NALD
by
76
%
and
RCDP
by
92
%
compared
to
control
values
of
1
.
9
+
/
-
0
.
1
nmol
/
min
per
mg
protein
.
Pyruvate
dehydrogenase
(
PDH
)
(
mean
+
/
-
SEM
;
activity
nmol
/
min
per
mg
protein
)
was
:
NALD
0
.
55
+
/
-
0
.
02
(
p
<
0
.
01
)
,
RCDP
0
.
44
+
/
-
0
.
02
(
P
<
0
.
01
)
,
and
controls
0
.
83
+
/
-
0
.
02
.
The
acid-insoluble
(
long
-chain
and
very
long
-chain
)
acyl-
CoA
levels
(
mean
+
/
-
SEM
;
pmol
/
mg
protein
)
were
:
NALD
129
+
/
-
69
(
p
<
0
.
01
)
,
RCDP
65
+
/
-
15
(
p
<
0
.
05
)
,
and
control
45
+
/
-
7
.
These
two
patients
with
generalized
peroxisomal
disorders
exhibited
an
increase
in
intracellular
acyl-
CoA
species
accompanied
by
decreased
PDH
activity
and
clinical
lactic
/
pyruvic
acidaemia
.
Diseases
Validation
Diseases presenting
"skin biopsies"
symptom
cadasil
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
omenn syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
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