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The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
[homocystinuria without methylmalonic aciduria]
In
this
work
,
we
review
the
clinical
and
genetic
data
in
14
Latin
American
propionic
acidemia
(
PA
)
and
15
methylmalonic
aciduria
(
MMAuria
)
patients
.
In
the
PA
patients
,
we
have
identified
four
different
changes
in
the
PCCA
gene
,
including
one
novel
one
(
c
.
414
+
5
G
>
A
)
affecting
the
splicing
process
.
The
PCCB
mutational
spectrum
included
two
prevalent
changes
accounting
for
close
to
60
%
of
the
mutant
alleles
studied
and
one
novel
change
(
c
.
494
G
>
C
)
which
by
functional
analysis
is
clearly
pathogenic
.
We
have
also
identified
the
deep
intronic
change
c
.
654
+
462
A
>
G
,
and
the
results
of
the
antisense
treatment
in
the
patient
's
cell
line
confirmed
the
functional
recovery
of
PCC
activity
.
All
PA
patients
bearing
out-of-frame
mutations
presented
the
disease
earlier
while
patients
bearing
in
hemizygous
fashion
p
.
E
168
K
and
p
.
R
165
W
presented
the
disease
later
.
Regarding
the
MMAuria
patients
,
we
have
found
three
novel
mutations
in
the
MUT
gene
(
c
.
1068
G
>
A
,
c
.
1587
_
1594
del
8
and
c
.
593
delA
)
and
one
in
the
MMAB
gene
(
c
.
349
-
1
G
>
C
)
.
Two
patients
with
MMAuria
with
homocystinuria
cblC
type
are
carriers
of
the
frequent
c
.
271
dupA
mutation
.
All
mut
(
0
)
,
cblB
and
cblC
patients
presented
the
symptoms
early
and
in
general
had
more
neurological
complications
,
while
cblA
and
mut
(
-
)
patients
exhibited
a
late-onset
presentation
,
and
in
general
the
long
-term
outcome
was
better
.
The
results
presented
in
this
work
emphasize
the
importance
of
the
genetic
analysis
of
the
patients
not
only
for
diagnostic
purposes
but
also
to
research
into
novel
therapies
based
on
the
genotype
.
Diseases
Validation
Diseases presenting
"changes in the pcca gene"
symptom
homocystinuria without methylmalonic aciduria
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