Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
[gm1 gangliosidosis]
Lysosomal
storage
disorders
(
LSD
)
are
rare
entities
of
recessive
inheritance
.
The
presence
of
a
"
founder
"
mutation
in
isolated
communities
with
a
high
degree
of
consanguinity
(
e
.
g
.
,
tribes
in
the
Middle
East
North
Africa
,
MENA
,
region
)
is
expected
to
lead
to
unusually
high
disease
prevalence
.
The
primary
aim
of
this
study
was
to
estimate
the
prevalence
of
LSD
and
report
their
mutation
spectrum
in
UAE
.
Between
1995
and
2010
,
119
patients
were
diagnosed
with
LSD
(
65
Emiratis
and
54
non-
Emiratis
)
.
Genotyping
was
performed
in
59
(
50
%
)
patients
(
39
Emirati
from
17
families
and
20
non-
Emiratis
from
17
families
)
.
The
prevalence
of
LSD
in
Emiratis
was
26
.
9
/
100
,
000
live
births
.
Sphingolipidoses
were
relatively
common
(
9
.
8
/
100
,
000
)
,
with
GM
1
-
gangliosidosis
being
the
most
prevalent
(
4
.
7
/
100
,
000
)
.
Of
the
Mucopolysaccharidoses
VI
,
IVA
and
IIIB
were
the
predominant
subtypes
(
5
.
5
/
100
,
000
)
.
Compared
to
Western
countries
,
the
prevalence
of
fucosidosis
,
Batten
disease
,
and
α-mannosidosis
was
40
-
,
sevenfold
,
and
fourfold
higher
in
UAE
,
respectively
.
The
prevalence
of
Pompe
disease
(
2
.
7
/
100
,
000
)
was
similar
to
The
Netherlands
,
but
only
the
infantile
subtype
was
found
in
UAE
.
Sixteen
distinct
LSD
mutations
were
identified
in
39
Emirati
patients
.
Eight
(
50
%
)
mutations
were
reported
only
in
Emirati
,
of
which
three
were
novel
[
c
.
1694
G
>
T
in
the
NAGLU
gene
,
c
.
1336
C
>
T
in
the
GLB
1
gene
,
and
homozygous
deletions
in
the
CLN
3
gene
]
.
Twenty
-
seven
(
42
%
)
patients
were
clustered
in
five
of
the
70
Emirati
tribes
.
These
findings
highlight
the
need
for
tribal-based
premarital
testing
and
genetic
counseling
.
Diseases
Validation
Diseases presenting
"lsd"
symptom
gm1 gangliosidosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom