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Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease.
[krabbe disease]
Krabbe
disease
(
KD
)
is
an
inherited
lysosomal
storage
disease
(
LSD
)
caused
by
the
deficiency
of
galactocerebrosidase
(
GALC
)
and
is
characterized
by
a
severe
and
progressive
leukodystrophy
with
death
frequently
before
one
year
of
life
in
the
classical
early
-onset
form
.
As
a
consequence
of
the
enzyme
defect
,
globoid
cells
containing
undigested
galactosylceramide
are
observed
and
are
characteristic
of
the
disease
.
Hematopoietic
stem
cell
transplantation
is
the
current
treatment
for
this
disease
,
with
some
success
in
the
classical
cases
if
performed
very
early
in
life
.
Definitive
diagnosis
of
KD
is
generally
accessed
by
determination
of
GALC
in
leukocytes
or
fibroblasts
.
For
the
last
few
years
,
dried-
blood
filter
paper
(
DBFP
)
samples
have
been
increasingly
used
for
lysosomal
enzyme
assays
.
Originally
,
some
lysosomal
enzymes
could
not
be
tested
in
DBFP
samples
using
fluorometric
assays
,
including
GALC
,
heparan-sulfamidase
and
a
few
others
.
Recently
,
we
reported
successful
results
using
dried-leukocytes
filter
paper
(
DLFP
)
samples
for
heparan
sulfamidase
and
β-galactosidase
.
Extending
these
studies
,
we
present
now
a
new
GALC
assay
on
these
type
of
samples
.
Adapted
leukocyte
fluorometric
assay
was
used
for
the
evaluation
of
GALC
in
DLFP
samples
.
O
ur
results
using
this
method
showed
a
clear
discrimination
between
GALC
levels
observed
in
KD
patients
and
healthy
controls
.
The
assay
is
robust
and
reliable
and
could
be
adopted
by
reference
laboratories
for
diagnosis
of
LSDs
.
It
is
expected
that
the
use
of
DLPF
would
make
it
possible
to
diagnose
patients
living
in
isolated
areas
,
where
liquid
samples
usually
have
to
be
transported
over
several
days
and
sometimes
across
country
borders
before
reaching
reference
laboratories
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated