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Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency.
[homocystinuria without methylmalonic aciduria]
CblC
deficiency
produces
a
combination
of
methylmalonic
aciduria
(
MMA
)
and
homocystinuria
(
HCU
)
,
and
is
the
most
common
error
of
cobalamin
metabolism
.
Patients
present
a
wide
spectrum
of
symptoms
,
ranging
from
early
severe
multisystemic
forms
,
to
milder
late-onset
phenotypes
.
Cognitive
and
visual
impairment
are
nearly
constant
.
Hydroxocobalamin
(
OHCbl
)
,
betaine
,
folinic
acid
,
levocarnitine
and
eventually
dietary
protein
restriction
are
the
main
therapeutic
approaches
.
Although
early
introduction
of
OHCbl
is
crucial
,
no
standardized
protocols
regarding
dose
adaptation
exist
.
No
reports
on
long
-term
outcomes
after
high
doses
of
this
vitamin
have
been
published
.
In
this
study
five
patients
with
CblC
deficiency
(
early
severe
forms
)
were
treated
with
high
doses
of
OHCbl
for
18
to
30
months
.
Clinical
examinations
,
neurological
assessment
,
and
biochemical
studies
(
plasma
total
homocysteine
(
tHcy
)
,
amino
acids
,
hydroxocobalamin
,
and
methylmalonic
acid
in
urine
)
were
periodically
performed
.
Variable
clinical
and
biochemical
outcomes
were
observed
in
patients
treated
with
high
doses
of
OHCbl
.
The
best
biochemical
response
was
observed
in
those
children
with
the
worse
metabolic
control
.
By
contrast
,
those
patients
with
a
concentration
of
tHcy
around
50
μmol
/
l
or
less
showed
only
minor
changes
.
Clinically
,
a
considerable
improvement
was
observed
in
those
patients
with
severe
problems
in
communication
,
expressive
language
and
behavior
.
According
to
our
study
,
high
OHCbl
doses
in
CblC
deficiency
could
have
a
greater
benefit
in
those
children
with
a
prior
history
of
suboptimal
metabolic
control
,
and
also
in
those
with
severe
neurological
phenotypes
.
More
specifically
,
we
observed
improvements
in
communication
skills
and
behavior
.
These
results
should
encourage
further
prospective
trials
to
determine
the
optimal
OHCbl
regimen
and
to
generate
protocols
and
guidelines
in
this
rare
disorder
.
Diseases
Validation
Diseases presenting
"common error"
symptom
homocystinuria without methylmalonic aciduria
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