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Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
[homocystinuria without methylmalonic aciduria]
Combined
methylmalonic
aciduria
and
homocystinuria
,
cobalamin
(
cbl
)
C
type
(
cblC
disease
)
,
the
most
common
inborn
error
of
vitamin
B
(
12
)
,
is
a
rare
disorder
of
intracellular
cbl
metabolism
because
of
mutations
in
the
MMACHC
gene
located
in
chromosome
region
1
p
34
.
1
.
It
has
become
possible
to
establish
phenotype-genotype
correlations
and
to
observe
ethnicity-related
trends
.
This
article
provides
detailed
clinical
manifestations
and
outcomes
of
a
Taiwanese
infant
boy
with
early
-onset
cblC
disease
,
heterozygous
for
c
.
609
G
>
A
and
c
.
567
dupT
mutations
,
although
there
is
limited
information
about
cases
with
c
.
609
G
>
A
or
c
.
567
dupT
mutation
in
the
literature
.
He
had
no
significant
clinical
abnormality
during
his
neonatal
period
,
whereas
elevated
C
3
level
was
noted
at
newborn
screening
.
He
presented
later
with
life-threatening
manifestations
and
failure
to
thrive
,
which
resolved
through
our
treatment
,
although
delayed
development
was
still
noted
at
6
months
of
age
.
To
date
,
all
reported
cblC
patients
with
the
c
.
609
G
>
A
mutation
have
been
East
Asians
.
Therefore
,
we
suggest
that
c
.
609
G
>
A
should
be
included
in
the
initial
mutation
screening
tests
for
a
cblC
patient
in
East
Asian
populations
.
Diseases
Validation
Diseases presenting
"heterozygous for c"
symptom
homocystinuria without methylmalonic aciduria
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