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β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.
[gm1 gangliosidosis]
A
5
-
year
-old
girl
with
clinical
and
biochemical
phenotypes
encompassing
both
GM
1
-
gangliosidosis
(
GM
1
)
and
Morquio
B
disease
(
MBD
)
is
described
.
Mild
generalized
skeletal
dysplasia
and
keratan
sulfaturia
were
consistent
with
a
diagnosis
of
MBD
,
while
developmental
delay
and
GM
1
-
specific
oligosacchariduria
were
consistent
with
GM
1
gangliosidosis
.
No
observable
β-galactosidase
activity
was
detected
in
leukocytes
,
and
two
mutations
,
p
.
R
201
H
(
c
.
602
G
>
A
)
and
p
.
G
311
R
(
c
.
931
G
>
A
)
,
were
identified
by
gene
sequencing
.
The
R
201
H
substitution
has
been
previously
reported
in
patients
with
both
GM
1
and
MBD
,
and
G
311
R
is
a
novel
mutation
.
Our
patient
represents
a
further
example
of
the
clinical
heterogeneity
that
can
result
from
mutations
at
the
β-galactosidase
locus
.
Diseases
Validation
Diseases presenting
"gm1"
symptom
adrenomyeloneuropathy
gm1 gangliosidosis
krabbe disease
x-linked adrenoleukodystrophy
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