Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"infantile patients"
symptom
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom