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Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
[gm1 gangliosidosis]
GM
1
gangliosidosis
is
a
lysosomal
disorder
caused
by
β-galactosidase
deficiency
due
to
mutations
in
the
GLB
1
gene
.
It
is
a
rare
neurodegenerative
disorder
with
an
incidence
of
about
1
:
100
,
000
-
1
:
200
,
000
live
births
worldwide
.
Here
we
review
GLB
1
mutations
and
clinical
features
from
65
Brazilian
GM
1
gangliosidosis
patients
.
Molecular
analysis
showed
17
different
mutations
and
c
.
1622
-
1627
insG
was
the
most
frequent
,
accounting
for
50
%
of
the
alleles
.
Cognitive
impairment
was
the
main
clinical
sign
,
observed
in
82
%
of
patients
,
followed
by
hepatosplenomegaly
observed
in
56
%
of
patients
.
It
was
possible
to
establish
a
significant
correlation
between
age
at
onset
of
symptoms
preceding
the
first
year
of
life
and
the
presence
of
the
mutation
c
.
1622
-
1627
insG
(
p
=
0
.
03
)
.
Overall
our
findings
differ
from
literature
and
represent
the
exclusive
genotypic
profile
found
in
Brazilian
GM
1
gangliosidosis
patients
.