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Glutathione metabolism in cobalamin deficiency type C (cblC).
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
with
homocystinuria
,
cblC
defect
,
is
the
most
frequent
disorder
of
vitamin
B
12
metabolism
.
CblC
patients
are
commonly
treated
with
a
multidrug
therapy
to
reduce
metabolite
accumulation
and
to
increase
deficient
substrates
.
However
the
long
-term
outcome
is
often
unsatisfactory
especially
in
patients
with
early
onset
,
with
frequent
progression
of
neurological
and
ocular
impairment
.
Recent
studies
,
have
shown
perturbation
of
cellular
redox
status
in
cblC
.
To
evaluate
the
potential
contribution
of
oxidative
stress
into
the
patophysiology
of
cblC
defect
,
we
have
analyzed
the
in
vivo
glutathione
metabolism
in
a
large
series
of
cblC
deficient
individuals
.
Levels
of
different
forms
of
glutathione
were
measured
in
lymphocytes
obtained
from
18
cblC
patients
and
compared
with
age-matched
controls
.
Furthermore
,
we
also
analyzed
plasma
cysteine
and
total
homocysteine
.
We
found
an
imbalance
of
glutathione
metabolism
in
cblC
patients
with
a
significant
decrease
of
total
and
reduced
glutathione
,
along
with
a
significant
increase
of
different
oxidized
glutathione
forms
.
These
findings
show
a
relevant
in
vivo
disturbance
of
glutathione
metabolism
underlining
the
contribution
of
glutathione
pool
depletion
to
the
redox
imbalance
in
treated
cblC
patients
.
Our
study
may
be
helpful
in
addressing
future
research
to
better
understanding
the
pathogenetic
mechanism
of
the
disease
and
in
developing
new
therapeutic
approaches
,
including
the
use
of
novel
vitamin
B
â‚â‚‚
derivatives
.
Diseases
Validation
Diseases presenting
"with frequent progression of neurological and ocular impairment"
symptom
homocystinuria without methylmalonic aciduria
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