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Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
[homocystinuria without methylmalonic aciduria]
Metabolomics
has
become
an
important
tool
in
clinical
research
and
diagnosis
of
human
diseases
.
In
this
work
we
focused
on
the
diagnosis
of
inherited
metabolic
disorders
(
IMDs
)
in
plasma
samples
using
a
targeted
metabolomic
approach
.
The
plasma
samples
were
analyzed
with
the
flow
injection
analysis
method
.
All
the
experiments
were
performed
on
a
QTRAP
5500
tandem
mass
spectrometer
(
AB
SCIEX
,
U
.
S
.
A
.
)
with
electrospray
ionization
.
The
compounds
were
measured
in
a
multiple
reaction
monitoring
mode
.
We
analyzed
50
control
samples
and
34
samples
with
defects
in
amino
acid
metabolism
(
phenylketonuria
,
maple
syrup
urine
disease
,
tyrosinemia
I
,
argininemia
,
homocystinuria
,
carbamoyl
phosphate
synthetase
deficiency
,
ornithine
transcarbamylase
deficiency
,
nonketotic
hyperglycinemia
)
,
organic
acidurias
(
methylmalonic
aciduria
,
propionic
aciduria
,
glutaric
aciduria
I
,
3
-
hydroxy-
3
-
methylglutaric
aciduria
,
isovaleric
aciduria
)
,
and
mitochondrial
defects
(
medium-chain
acyl-coenzyme
A
dehydrogenase
deficiency
,
carnitine
palmitoyltransferase
II
deficiency
)
.
The
controls
were
distinguished
from
the
patient
samples
by
principal
component
analysis
and
hierarchical
clustering
.
Approximately
80
%
of
patients
were
clearly
detected
by
absolute
metabolite
concentrations
,
the
sum
of
variance
for
first
two
principle
components
was
in
the
range
of
44
-
55
%
.
Other
patient
samples
were
assigned
due
to
the
characteristic
ratio
of
metabolites
(
the
sum
of
variance
for
first
two
principle
components
77
and
83
%
)
.
This
study
has
revealed
that
targeted
metabolomic
tools
with
automated
and
unsupervised
processing
can
be
applied
for
the
diagnosis
of
various
IMDs
.
Diseases
Validation
Diseases presenting
"mitochondrial defects"
symptom
homocystinuria without methylmalonic aciduria
inclusion body myositis
pyruvate dehydrogenase deficiency
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