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A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.
[gm1 gangliosidosis]
Mutations
in
the
GLB
1
gene
,
which
encodes
acid
β-galactosidase
,
can
result
in
two
disease
phenotypes
:
GM
1
-
gangliosidosis
(
MIM
#
230500
)
and
Morquio
B
disease
(
Mucopolysaccharidosis
type
IVB
,
MIM
#
253010
)
.
Morquio
B
disease
occurs
much
more
infrequently
than
GM
1
-
gangliodosis
and
is
characterized
by
severe
skeletal
manifestations
(
dysostosis
multiplex
)
without
central
nervous
system
involvement
.
Here
,
we
report
the
first
known
Korean
patient
with
Morquio
B
disease
.
A
7
-
year
-old
boy
presented
with
severe
progressive
skeletal
dysplasia
including
scoliosis
,
contractures
of
the
elbows
,
xenu
valgum
,
funnel
chest
,
and
trigger
thumb
requiring
surgical
intervention
.
The
patient
had
normal
neurological
functions
and
mental
status
when
evaluated
by
pediatric
neurologists
.
The
patient
's
urinary
glycosaminoglycans
,
measured
by
the
cetylpyridinium
chloride
(
CPC
)
precipitation
test
,
were
252
.
8
CPC
unit
/
g
creatinine
(
reference
range
<
175
)
.
Thin
layer
chromatography
of
urine
showed
a
keratan
sulfate
band
.
Enzyme
activity
of
β-galactosidase
in
leukocytes
was
1
.
15
nmol
/
hr
/
mg
protein
(
reference
range
78
.
1
-
117
.
7
;
1
-
1
.
5
%
of
normal
)
.
The
patient
had
compound
heterozygous
mutations
of
the
GLB
1
gene
:
c
.
13
_
14
insA
(
p
.
L
5
HfsX
29
)
,
which
was
reported
in
a
patient
with
infantile
GM
1
gangliosidosis
with
the
near-
complete
absence
of
enzyme
activity
,
and
c
.
367
G
>
A
(
p
.
G
123
R
)
,
which
is
a
novel
frame-shift
mutation
.
In
summary
,
we
report
the
first
known
Korean
patient
with
Morquio
B
disease
and
a
novel
mutation
(
c
.
13
_
14
insA
of
GLB
1
)
.
Diseases
Validation
Diseases presenting
"central nervous system involvement"
symptom
acute rheumatic fever
congenital toxoplasmosis
erdheim-chester disease
gm1 gangliosidosis
kabuki syndrome
malignant atrophic papulosis
scrub typhus
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