Rare Diseases Symptoms Automatic Extraction
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Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report.
[phenylketonuria]
In
order
to
enhance
awareness
and
promote
registry
for
inborn
errors
of
metabolism
(
IEMs
)
in
Egypt
,
we
aimed
to
evaluate
the
prevalence
and
main
clinical
findings
of
IEMs
detectable
by
tandem
mass
spectrometry
(
MS
/
MS
)
among
high
risk
pediatric
patients
presenting
to
our
tertiary
care
facility
at
Cairo
University
Children
's
Hospital
over
a
period
of
5
years
and
to
compare
the
disease
burden
in
Egypt
in
the
absence
of
a
national
screening
program
for
inherited
metabolic
disorders
with
other
populations
.
During
this
period
3380
Egyptian
children
were
suspected
of
having
IEMs
based
on
clinical
/
laboratory
presentation
and
were
analyzed
by
MS
/
MS
.
Confirmatory
testing
was
performed
according
to
flagged
analyte
by
MS
/
MS
using
a
different
sample
type
such
as
plasma
or
urine
or
by
a
different
technique
such
as
GC
/
MS
.
A
relatively
high
number
of
patients
(
203
/
3380
(
6
%
)
)
were
confirmed
with
17
different
types
of
IEMs
.
Averages
for
age
at
diagnosis
for
different
disorders
ranged
from
2
.
5
months
to
6
.
6
years
with
general
developmental
delay
and
irreversible
neurological
damage
being
the
most
common
presenting
features
(
75
.
9
%
and
65
.
5
%
,
respectively
)
.
Amino
acid
disorders
(
127
/
203
(
62
.
6
%
)
)
,
mainly
phenylketonuria
(
100
/
203
(
49
.
3
%
)
)
,
were
the
most
encountered
,
followed
by
organic
acidemias
(
69
/
203
(
34
%
)
)
,
while
fatty
acid
oxidation
defects
(
7
/
203
(
3
.
4
%
)
)
were
relatively
rare
.
88
%
of
patients
were
born
to
consanguineous
parents
.
The
development
of
a
nationwide
screening
program
for
IEMs
is
mandatory
for
early
detection
of
these
potentially
treatable
disorders
,
prompt
and
properly
timed
therapeutic
intervention
and
prevention
of
the
devastating
neurological
outcomes
.
