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Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb₃-related analogues in Fabry disease.
[fabry disease]
Fabry
disease
is
a
multisystemic
,
X-
linked
lysosomal
storage
disorder
caused
by
a
deficit
in
α-galactosidase
A
enzyme
activity
leading
to
glycosphingolipid
accumulation
,
mainly
globotriaosylceramide
(
Gb
3
)
and
globotriaosylsphingosine
(
lyso-
Gb
3
)
.
Recent
metabolomic
studies
have
led
to
the
discovery
of
novel
biomarkers
related
to
lyso-
Gb
3
in
plasma
and
urine
.
These
biomarkers
show
modifications
of
the
sphingosine
moiety
of
the
lyso-
Gb
3
molecule
.
The
objectives
of
this
study
were
to
develop
and
validate
a
liquid
chromatography-tandem
mass
spectrometry
method
for
the
relative
quantification
of
novel
plasma
lyso-
Gb
3
-
related
analogues
,
to
evaluate
their
levels
in
plasma
of
74
Fabry
patients
and
41
healthy
controls
and
to
correlate
these
results
with
patient
gender
,
enzyme
replacement
therapy
treatment
,
and
lyso-
Gb
3
analogue
levels
previously
measured
in
urine
for
the
same
patients
.
As
expected
,
the
concentrations
of
lyso-
Gb
3
and
its
related
analogues
in
plasma
are
higher
in
Fabry
males
compared
to
Fabry
females
and
higher
for
untreated
males
compared
to
treated
males
.
The
concentration
of
lyso-
Gb
3
and
its
related
analogues
in
plasma
decrease
significantly
after
the
beginning
of
enzyme
replacement
therapy
(
ERT
)
treatment
and
remain
stable
for
30
months
of
monitored
therapy
in
a
Fabry
male
.
In
plasma
,
lyso-
Gb
3
is
significantly
more
abundant
than
its
related
analogues
,
which
differs
from
urine
where
the
majority
of
the
lyso-
Gb
3
analogues
are
more
increased
than
lyso-
Gb
3
itself
.
In
contrast
to
urine
,
the
relative
distribution
of
lyso-
Gb
3
and
its
analogues
in
plasma
is
similar
from
one
individual
to
another
in
the
same
group
of
Fabry
patients
,
irrespective
of
ERT
.
This
study
revealed
a
large
discrepancy
between
the
relative
abundance
of
lyso-
Gb
3
and
its
analogues
in
urine
and
plasma
.
Further
studies
will
thus
be
needed
to
better
understand
the
metabolic
relationship
between
plasma
and
urine
lyso-
Gb
3
-
related
biomarkers
.
Diseases
Validation
Diseases presenting
"mainly globotriaosylceramide"
symptom
fabry disease
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