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Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.
[krabbe disease]
New
York
State
has
screened
over
1
.
2
million
newborns
for
Krabbe
disease
,
and
we
identified
4
newborns
with
infantile
Krabbe
disease
.
In
addition
,
6
other
newborns
were
identified
with
very
low
galactosylcerebrosidase
(
GALC
)
activity
.
Because
these
patients
remain
asymptomatic
,
we
investigated
whether
psychosine
levels
could
be
a
useful
marker
for
disease
.
HPLC-
MS
/
MS
methodology
was
used
to
determine
the
psychosine
concentrations
in
dried
blood
spots
(
DBS
)
collected
from
the
following
cohorts
:
known
Krabbe
patients
,
screened
babies
that
were
determined
to
have
infantile
Krabbe
disease
,
asymptomatic
infants
with
low
GALC
activity
,
and
normal
controls
.
The
psychosine
concentrations
from
the
known
Krabbe
patients
ranged
from
7
to
50
ng
/
ml
.
Newborns
identified
by
screening
who
were
confirmed
with
infantile
Krabbe
disease
ranged
from
23
to
73
ng
/
ml
.
Asymptomatic
individuals
with
low
GALC
activity
had
concentrations
ranging
from
1
.
7
to
5
.
7
ng
/
ml
.
Concentrations
in
newborns
with
normal
GALC
activity
were
all
<
3
ng
/
ml
.
The
psychosine
concentrations
in
DBS
from
confirmed
infantile
patients
are
at
least
four
times
higher
than
the
asymptomatic
newborns
and
nearly
an
order
of
magnitude
greater
than
normal
newborns
.
Further
studies
are
needed
to
determine
if
psychosine
can
be
used
as
a
predictor
of
disease
status
/
progression
in
screen
positive
newborns
.
Diseases
Validation
Diseases presenting
"positive newborns"
symptom
krabbe disease
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