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Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
[homocystinuria without methylmalonic aciduria]
Combined
methylmalonic
acidemia
and
homocystinuria
,
cblC
type
,
is
stated
to
be
the
most
common
inborn
error
of
intracellular
cobalamin
metabolism
.
The
disorder
can
display
a
wide
spectrum
of
clinical
manifestations
,
spanning
the
prenatal
period
through
late
adulthood
.
While
increased
homocysteine
concentrations
and
impaired
methyl
group
metabolism
may
contribute
to
disease-related
complications
,
the
characteristic
macular
and
retinal
degeneration
seen
in
many
affected
patients
appears
to
be
unique
to
cblC
disease
.
The
early
detection
of
cblC
disease
by
newborn
screening
mandates
a
careful
assessment
of
therapeutic
approaches
and
provides
a
new
opportunity
to
improve
the
outcome
of
affected
patients
.
The
following
article
reviews
the
current
knowledge
on
the
complications
,
pathophysiology
,
and
outcome
of
cblC
disease
in
an
effort
to
better
guide
clinical
practice
and
future
therapeutic
trials
.