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A random Abstract
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A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.
[homocystinuria without methylmalonic aciduria]
A
neonate
,
who
was
found
to
have
an
elevated
C
3
/
C
2
ratio
and
minimally
elevated
propionylcarnitine
on
newborn
screening
,
was
subsequently
identified
as
having
the
rare
cblF
inborn
error
of
vitamin
B
12
(
cobalamin
)
metabolism
.
This
disorder
is
characterized
by
the
retention
of
unmetabolized
cobalamin
in
lysosomes
such
that
it
is
not
readily
available
for
cellular
metabolism
.
Although
cultured
fibroblasts
from
the
patient
did
not
show
the
expected
functional
abnormalities
of
the
cobalamin-dependent
enzymes
,
methylmalonyl-
CoA
mutase
and
methionine
synthase
,
they
did
show
reduced
synthesis
of
the
active
cobalamin
cofactors
adenosylcobalamin
and
methylcobalamin
.
Mutation
analysis
of
LMBRD
1
established
that
the
patient
had
the
cblF
disorder
.
Treatment
was
initiated
promptly
,
and
the
patient
showed
a
robust
response
to
regular
injections
of
cyanocobalamin
,
and
she
was
later
switched
to
hydroxocobalamin
.
Currently
,
at
3
years
of
age
,
the
child
is
clinically
well
,
with
appropriate
development
.
Adjusted
newborn
screening
cutoffs
in
Ontario
allowed
detection
of
a
deficiency
that
might
not
have
otherwise
been
identified
,
allowing
early
treatment
and
perhaps
preventing
the
adverse
sequelae
seen
in
some
untreated
patients
.
Diseases
Validation
Diseases presenting
"methylmalonyl-coa mutase and methionine synthase"
symptom
homocystinuria without methylmalonic aciduria
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