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Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
and
homocystinuria
,
cobalamin
C
(
cblC
)
type
,
is
the
most
frequent
inborn
error
of
vitamin
B
12
metabolism
.
The
clinical
phenotype
includes
systemic
symptoms
and
neurological
decompensation
.
Affected
patients
can
be
divided
into
two
broad
groups
,
as
early
-onset
and
late-onset
.
We
present
a
Turkish
patient
who
had
neurological
impairment
at
the
age
of
four
years
as
presented
with
late-onset
cblC
defect
.
Homozygous
c
.
394
C
<
T
;
p
.
R
132
*
mutation
in
the
MMACHC
gene
was
detected
.
The
patient
was
treated
with
hydroxocobalamin
,
betaine
and
folic
acid
combination
with
good
clinical
and
biochemical
response
.