Rare Diseases Symptoms Automatic Extraction
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Newborn screening for metabolic diseases: saving children's lives and improving outcomes.
[phenylketonuria]
Newborn
screening
for
metabolic
diseases
was
initially
introduced
in
the
1960
s
with
a
program
for
the
early
diagnosis
of
phenylketonuria
.
Guidelines
for
the
introduction
of
additional
conditions
to
the
screen
required
that
the
condition
was
sufficiently
common
to
merit
screening
,
that
it
was
treatable
and
that
the
cost
of
diagnosis
was
not
prohibitive
.
Additional
conditions
added
to
the
screen
included
congenital
hypothyroidism
and
congenital
adrenal
hyperplasia
.
The
recognition
of
medium-chain
acyl
0
CoA
dehydrogenase
deficiency
coupled
to
the
advent
of
tandem
mass
spectrometry
as
a
diagnostic
tool
allowed
for
the
inclusion
of
many
more
conditions
into
screening
programs
,
some
of
which
do
not
fit
the
original
criteria
for
inclusion
.
This
presentation
will
discuss
the
current
state
of
newborn
screening
for
metabolic
diseases
and
report
on
clinical
outcome
measures
of
patients
identified
by
screening
.
