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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
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated