Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
(
MMA
)
and
homocystinuria
,
cblC
type
(
MIM
277400
)
is
the
most
frequent
inborn
error
of
vitamin
B
(
12
)
.
The
recent
identification
of
the
disease
gene
,
MMACHC
,
has
permitted
preliminary
genotype-phenotype
correlations
.
We
studied
24
Italian
and
17
Portuguese
patients
with
cblC
defect
to
illustrate
the
spectrum
of
mutations
in
a
southern
European
population
and
discuss
the
impact
that
mutation
identification
has
on
routine
diagnostic
procedures
.
Since
the
metabolic
defect
raises
the
serum
levels
of
homocysteine
,
we
also
tested
if
variants
in
MTHFR
-playing
a
key
role
in
homocysteine
remethylation
pathway-could
act
as
genetic
modifier
in
cblC
defect
.
We
found
that
the
c
.
271
dupA
(
accounting
for
55
%
of
the
MMACH
alleles
in
our
cohort
)
followed
by
c
.
394
C
>
T
(
16
%
)
and
c
.
331
C
>
T
(
9
%
)
were
the
most
frequent
mutations
.
In
our
study
we
also
identified
a
novel
mutation
(
c
.
544
T
>
C
)
.
On
the
other
hand
,
the
MTHFR
genotype
did
not
appear
to
influence
age
at
onset
,
the
clinical
phenotype
and
outcome
of
patients
with
cblC
defect
.
This
study
shows
that
mutation
screening
for
the
most
common
MMACH
mutations
occurring
in
early
-onset
forms
(
c
.
271
dupA
and
c
.
331
C
>
T
)
seems
to
have
a
high
diagnostic
yield
in
a
southern
European
population
with
cblC
defect
.
Although
the
identification
of
the
gene
defect
per
se
does
not
predict
completely
time
and
severity
of
disease
appearance
,
our
data
corroborate
the
importance
of
a
molecular
testing
to
offer
accurate
prenatal
diagnosis
to
couples
at
high
risk
of
having
affected
children
.
Diseases
Validation
Diseases presenting
"discuss the impact that mutation identification has on routine diagnostic procedures"
symptom
homocystinuria without methylmalonic aciduria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom