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Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
and
homocystinuria
,
cblC
type
(
MIM
277400
)
,
is
the
most
frequent
inborn
error
of
vitamin
B
12
(
cobalamin
,
Cbl
)
metabolism
,
caused
by
an
inability
of
the
cell
to
convert
Cbl
to
both
of
its
active
forms
(
MeCbl
,
AdoCbl
)
.
Although
considered
a
disease
of
infancy
,
some
patients
develop
symptoms
in
childhood
,
adolescence
,
or
adulthood
.
The
gene
responsible
for
cblC
,
MMACHC
,
was
recently
identified
.
We
studied
phenotype-genotype
correlations
in
37
patients
from
published
case-reports
,
representing
most
of
the
landmark
descriptions
of
this
disease
.
25
/
37
had
early
-onset
disease
,
presenting
in
the
first
6
months
of
life
:
17
/
25
were
found
to
be
either
homozygous
for
the
c
.
271
dupA
mutation
(
n
=
9
)
or
for
the
c
.
331
C
>
T
mutation
(
n
=
3
)
,
or
compound
heterozygotes
for
these
2
mutations
(
n
=
5
)
.
9
/
12
late-onset
cases
presented
with
acute
neurological
symptoms
:
4
/
9
were
homozygous
for
the
c
.
394
C
>
T
mutation
,
2
/
9
were
compound
heterozygotes
for
the
c
.
271
dupA
and
c
.
394
C
>
T
mutations
,
and
3
/
9
,
for
the
c
.
271
dupA
mutation
and
a
missense
mutation
.
Several
observations
on
ethnic
origins
were
noted
:
the
c
.
331
C
>
T
mutation
is
seen
in
Cajun
and
French
-
Canadian
patients
and
the
c
.
394
C
>
T
mutation
is
common
in
the
Asiatic-
Indian
/
Pakistani
/
Middle
Eastern
populations
.
The
recognition
of
phenotype-genotype
correlations
and
the
association
of
mutations
with
specific
ethnicities
will
be
useful
for
identification
of
disease-causing
mutations
in
cblC
patients
,
for
carrier
detection
and
prenatal
diagnosis
in
families
where
mutations
are
known
,
and
in
setting
up
initial
screening
programs
in
molecular
diagnostic
laboratories
.
Further
study
into
disease
mechanism
of
specific
mutations
will
help
to
understand
phenotypic
presentations
and
the
overall
pathogenesis
in
cblC
patients
.
Diseases
Validation
Diseases presenting
"presenting in the first 6 months of life"
symptom
homocystinuria without methylmalonic aciduria
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