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Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.
[fabry disease]
Elevated
urinary
globotriaosylceramide
(
Gb
3
)
has
been
considered
a
hallmark
of
Fabry
disease
,
an
X-
linked
lysosomal
disorder
that
is
a
risk
factor
for
most
types
of
heart
disease
.
We
screened
1421
consecutive
patients
with
common
forms
of
heart
disease
for
Fabry
disease
by
measuring
urinary
Gb
3
in
whole
urine
using
tandem
mass
spectrometry
,
α-galactosidase
A
activity
in
dried
blood
spots
,
and
we
looked
for
GLA
mutations
by
parallel
sequencing
of
the
whole
gene
(
exons
and
introns
)
in
pooled
genomic
DNA
samples
followed
by
Sanger
sequencing
verification
.
GLA
variants
were
found
in
13
patients
.
In
the
1408
patients
without
GLA
mutations
,
urinary
Gb
3
levels
were
significantly
higher
in
heart
disease
patients
compared
to
116
apparently
healthy
controls
(
median
difference
=
10
.
0
ng
/
mL
and
P
<
0
.
001
)
.
Urinary
lipid
profiling
showed
that
levels
of
5
other
lipids
significantly
distinguished
between
urine
of
patients
with
Fabry
disease
(
n
=
7
)
and
heart
disease
patients
with
elevated
urinary
Gb
3
(
n
=
6
)
.
Sphingomyelin
and
Gb
3
levels
were
abnormal
in
the
left
ventricular
wall
of
patients
with
ischemic
heart
failure
.
Elevated
levels
of
urinary
Gb
3
were
independently
associated
with
increased
risk
of
death
in
the
average
follow-up
of
17
months
(
hazard
ratio
=
1
.
59
for
increase
in
Gb
3
of
200
,
95
%
CI
=
1
.
36
and
1
.
87
,
and
P
<
0
.
0001
)
.
In
heart
disease
patients
who
do
not
have
Fabry
disease
or
GLA
gene
mutations
,
a
higher
level
of
urinary
Gb
3
is
positively
associated
with
near-term
mortality
.
The
elevation
of
urinary
Gb
3
and
that
of
other
lipids
suggests
that
heart
disease
is
associated
with
multiorgan
lipid
abnormalities
.
clinicaltrials
.
gov
.
Unique
Identifier
:
NCT
01019629
.
Diseases
Validation
Diseases presenting
"elevated urinary globotriaosylceramide"
symptom
fabry disease
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