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Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
[krabbe disease]
To
present
clinical
,
biochemical
and
molecular
information
on
six
new
clinically
diagnosed
Krabbe
disease
patients
and
assess
the
sensitivity
of
retrospective
galactocerebrosidase
measurement
in
their
newborn
screening
samples
.
Medical
records
were
reviewed
.
Galactocerebrosidase
activity
was
measured
in
leukocytes
and
,
retrospectively
,
in
the
patients
'
newborn
screening
cards
(
stored
for
1
.
4
to
13
.
5
years
)
.
GALC
gene
mutation
analysis
was
performed
.
Five
patients
with
Krabbe
disease
,
one
of
whom
also
had
hydrocephalus
,
became
symptomatic
during
infancy
.
A
sixth
patient
presented
with
seizures
and
developmental
regression
at
age
two
and
had
a
protracted
disease
course
.
Galactocerebrosidase
activity
in
leukocytes
ranged
from
0
.
00
to
0
.
20
nmol
/
h
/
mg
protein
.
Low
galactocerebrosidase
activity
(
range
:
3
.
2
%
to
11
.
1
%
of
the
daily
mean
)
,
consistent
with
Krabbe
disease
,
was
detected
in
each
of
the
newborn
screening
samples
.
GALC
molecular
analysis
identified
six
previously
unreported
mutations
and
two
novel
sequence
variants
.
Our
cases
highlight
the
clinical
variability
of
Krabbe
disease
.
Galactocerebrosidase
activity
in
newborn
dried
blood
spots
is
a
highly
sensitive
test
,
even
when
samples
have
been
stored
for
many
years
.
The
high
frequency
of
private
mutations
in
the
GALC
gene
may
limit
the
use
of
genetic
information
for
making
treatment
decisions
in
the
newborn
period
.
Diseases
Validation
Diseases presenting
"mutations in the galc gene"
symptom
krabbe disease
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