Rare Diseases Symptoms Automatic Extraction
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Our Team
Simplified newborn screening protocol for lysosomal storage disorders.
[krabbe disease]
Interest
in
lysosomal
storage
disorders
,
a
collection
of
more
than
40
inherited
metabolic
disorders
,
has
increased
because
of
new
therapy
options
such
as
enzyme
replacement
,
stem
cell
transplantation
,
and
substrate
reduction
therapy
.
We
developed
a
high
-throughput
protocol
that
simplifies
analytical
challenges
such
as
complex
sample
preparation
and
potential
interference
from
excess
residual
substrate
associated
with
previously
reported
assays
.
After
overnight
incubation
(
16
-
20
h
)
of
dried
blood
spots
with
a
cassette
of
substrates
and
deuterated
internal
standards
,
we
used
a
TLX-
2
system
to
quantify
6
lysosomal
enzyme
activities
for
Fabry
,
Gaucher
,
Niemann-
Pick
A
/
B
,
Pompe
,
Krabbe
,
and
mucopolysaccharidosis
I
disease
.
This
multiplexed
,
multidimensional
ultra-
HPLC-tandem
mass
spectrometry
assay
included
Cyclone
P
Turbo
Flow
and
Hypersil
Gold
C
8
columns
.
The
method
did
not
require
offline
sample
preparation
such
as
liquid-liquid
and
solid-phase
extraction
,
or
hazardous
reagents
such
as
ethyl
acetate
.
Obviating
the
offline
sample
preparation
steps
led
to
substantial
savings
in
analytical
time
(
approximately
70
%
)
and
reagent
costs
(
approximately
50
%
)
.
In
a
pilot
study
,
lysosomal
enzyme
activities
of
8586
newborns
were
measured
,
including
51
positive
controls
,
and
the
results
demonstrated
100
%
diagnostic
sensitivity
and
high
specificity
.
The
results
for
Krabbe
disease
were
validated
with
parallel
measurements
by
the
New
York
State
Screening
Laboratory
.
Turboflow
online
sample
cleanup
and
the
use
of
an
additional
analytical
column
enabled
the
implementation
of
lysosomal
storage
disorder
testing
in
a
nationwide
screening
program
while
keeping
the
total
analysis
time
to
<
2
min
per
sample
.
Diseases
Validation
Diseases presenting
"high specificity"
symptom
adrenal incidentaloma
cushing syndrome
esophageal adenocarcinoma
esophageal squamous cell carcinoma
inclusion body myositis
krabbe disease
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