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Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS).
[homocystinuria without methylmalonic aciduria]
Cobalamin
(
Vitamin
B
12
)
plays
an
essential
role
both
in
the
conversion
of
methylmalonyl-
CoA
to
succinyl-
CoA
and
in
the
synthesis
of
methionine
(
Met
)
from
homocysteine
(
Hcy
)
.
Elevations
of
total
homocysteine
(
tHcy
)
,
Met
,
methylmalonic
acid
(
MMA
)
,
and
2
-
methylcitric
acid
(
2
MCA
)
are
indicative
of
disorders
in
these
related
pathways
,
and
can
clinically
present
as
methylmalonic
acidemia
,
cobalamin
defects
or
deficiency
,
propionic
acidemia
,
homocystinuria
,
and
hypermethioninemia
.
We
have
developed
a
fast
,
sensitive
,
and
simple
method
for
the
simultaneous
detection
of
plasma
tHcy
,
MMA
,
Met
,
and
2
MCA
using
liquid
chromatography
mass
spectrometry
(
LC
/
MS
/
MS
)
.
All
analytes
were
directly
determined
without
the
need
of
derivatization
.
Both
positive
and
negative
modes
were
used
to
achieve
the
best
sensitivity
and
specificity
.
The
two
stereo
isomers
of
2
MCA
(
2
S
,
3
S
)
and
(
2
R
,
3
S
)
were
successfully
separated
and
were
designated
as
2
MCA
1
and
2
MCA
2
.
The
assays
were
linear
up
to
a
concentration
of
800
μMol
/
l
for
tHcy
,
2
,
000
μMol
/
l
for
Met
,
80
μMol
/
l
for
MMA
,
40
μMol
/
l
for
2
MCA
1
,
and
40
μMol
/
l
for
2
MCA
2
(
80
μMol
/
l
for
total
2
MCA
)
,
respectively
.
The
recovery
was
between
84
.
42
%
and
120
.
05
%
.
The
intra-assay
coefficient
of
variations
(
CVs
)
ranged
from
2
.
1
%
to
6
.
9
%
(
n
=
20
)
,
and
the
inter-assay
CVs
ranged
from
2
.
7
%
to
11
.
6
%
(
n
=
20
)
.
Reference
intervals
were
established
and
verified
(
n
=
125
)
.
A
total
of
15
patients
with
variable
disorders
in
related
pathway
were
successfully
confirmed
.
The
assay
can
be
performed
either
in
diagnostic
laboratories
or
as
second
-tier
,
follow-up
test
in
newborn
screening
laboratories
.
A
fast
,
sensitive
,
and
simple
LC
/
MS
/
MS
method
was
developed
successfully
for
the
simultaneous
detection
of
plasma
total
homocysteine
,
methylmalonic
acid
,
methionine
,
and
2
-
methylcitric
acid
for
diagnosis
of
disorders
in
related
pathways
.
Diseases
Validation
Diseases presenting
"simple method for the simultaneous detection"
symptom
homocystinuria without methylmalonic aciduria
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