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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
[homocystinuria without methylmalonic aciduria]
Combined
methylmalonic
acidemia
and
homocystinuria
,
cblC
type
,
is
an
inborn
error
of
intracellular
cobalamin
metabolism
with
a
wide
spectrum
of
clinical
manifestations
that
is
stated
to
be
the
most
common
inherited
disorder
of
cobalamin
metabolism
.
This
metabolic
disease
is
caused
by
mutations
in
the
MMACHC
gene
and
results
in
impaired
intracellular
synthesis
of
adenosylcobalamin
and
methylcobalamin
,
cofactors
for
the
methylmalonyl-
CoA
mutase
and
methionine
synthase
enzymes
.
Elevated
methylmalonic
acid
and
homocysteine
with
decreased
methionine
production
are
the
biochemical
hallmarks
of
this
disorder
.
Awareness
of
the
diverse
clinical
presentations
associated
with
cblC
disease
is
necessary
to
provide
a
timely
diagnosis
,
to
guide
management
of
affected
individuals
and
to
establish
a
framework
for
the
future
treatment
of
individuals
detected
through
expanded
newborn
screening
.
This
article
reviews
the
biochemistry
,
clinical
presentations
,
genotype-phenotype
correlations
,
diagnosis
and
management
of
cblC
disease
.