Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.
[zellweger syndrome]
To
identify
the
mutations
underlying
a
number
of
inborn
errors
of
metabolism
(
IEM
)
disorders
among
United
Arab
Emirates
(
UAE
)
residents
.
Molecular
diagnostic
and
bioinformatics
tools
were
used
to
identify
the
causative
mutations
of
IEM
disorders
from
multi-ethnic
patients
residing
in
UAE
.
The
study
was
conducted
in
Al
-
Ain
,
UAE
,
between
April
2009
and
September
2010
.
This
is
a
case
series
retrospective
study
where
patients
attending
the
metabolic
clinic
at
Tawam
Hospital
were
recruited
.
Thirty
patients
and
26
parents
were
included
.
We
present
evidence
in
the
UAE
of
7
new
mutations
and
19
mutations
that
have
previously
been
reported
in
other
populations
,
all
causing
a
number
of
common
IEM
disorders
,
including
phenylketonuria
,
maple
syrup
urine
disease
,
glycogen
storage
diseases
,
beta
-ketothiolase
deficiency
,
and
Zellweger
syndrome
among
many
others
.
Reflecting
the
diverse
ethnic
groups
residing
in
the
UAE
,
we
found
mutations
in
several
different
population
groups
.
However
,
consanguinity
is
evident
in
most
cases
.
This
report
is
of
utmost
importance
for
taking
the
necessary
steps
toward
the
prevention
of
inherited
disorders
,
not
just
in
the
UAE
,
but
anywhere
in
the
world
where
these
Arab
and
Asian
populations
reside
,
or
where
consanguinity
is
a
cultural
norm
.
Diseases
Validation
Diseases presenting
"and zellweger syndrome among many others"
symptom
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom