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Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease.
[krabbe disease]
Acid
sphingomyelinase
(
ASMase
)
-
deficient
Niemann-
Pick
disease
(
NPD
)
is
caused
by
mutations
in
the
sphingomyelin
phosphodiesterase
1
(
SMPD
1
)
gene
,
resulting
in
accumulation
of
sphingomyelin
in
the
lysosomes
and
secondary
changes
in
cholesterol
metabolism
.
We
hypothesized
that
the
oxidation
product
of
cholesterol
,
7
-
ketocholesterol
(
7
-
KC
)
,
might
increase
in
the
plasma
of
patients
with
ASMase-
deficient
NPD
.
In
this
study
,
a
rapid
and
nonderivatized
method
of
measurement
of
plasma
7
-
KC
by
liquid
chromatography-tandem
mass
spectrometry
(
LC
-
MS
/
MS
)
was
developed
.
Plasma
samples
from
healthy
subjects
,
patients
with
ASMase-
deficient
NPD
,
nonaffected
ASMase-
deficient
NPD
heterozygotes
,
Niemann-
Pick
type
C
(
NPC
)
disease
,
glycogen
storage
disorder
type
II
(
GSDII
)
,
Gaucher
disease
(
GD
)
,
mucopolysaccharidosis
type
II
(
MPSII
)
,
Krabbe
disease
(
KD
)
,
and
metachromatic
leukodystrophy
(
MLD
)
were
tested
retrospectively
.
Markedly
elevated
7
-
KC
was
found
in
patients
with
ASMase-
deficient
NPD
and
NPC
disease
that
showed
significant
differences
from
ASMase-
deficient
NPD
heterozygotes
;
patients
with
GSDII
,
GD
,
MPSII
,
KD
,
and
MLD
;
and
normal
controls
.
The
analysis
of
plasma
7
-
KC
by
LC
-
MS
/
MS
offers
the
first
simple
,
quantitative
,
and
highly
sensitive
method
for
detection
of
ASMase-
deficient
NPD
and
could
be
useful
in
the
diagnosis
of
both
ASMase-
deficient
NPD
and
NPC
disease
.
Diseases
Validation
Diseases presenting
"liquid chromatography-tandem mass spectrometry"
symptom
adrenal incidentaloma
aniridia
krabbe disease
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