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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
.
