Rare Diseases Symptoms Automatic Extraction
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Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism.
[homocystinuria without methylmalonic aciduria]
Urine
metabolic
profiles
of
patients
with
inborn
errors
of
metabolism
were
examined
with
nuclear
magnetic
resonance
(
NMR
)
and
desorption
electrospray
ionization
mass
spectrometry
(
DESI-
MS
)
methods
.
Spectra
obtained
from
the
study
of
urine
samples
from
individual
patients
with
argininosuccinic
aciduria
(
ASA
)
,
classic
homocystinuria
(
HCY
)
,
classic
methylmalonic
acidemia
(
MMA
)
,
maple
syrup
urine
disease
(
MSUD
)
,
phenylketonuria
(
PKU
)
and
type
II
tyrosinemia
(
TYRO
)
were
compared
with
six
control
patient
urine
samples
using
principal
component
analysis
(
PCA
)
.
Target
molecule
spectra
were
identified
from
the
loading
plots
of
PCA
output
and
compared
with
known
metabolic
profiles
from
the
literature
and
metabolite
databases
.
Results
obtained
from
the
two
techniques
were
then
correlated
to
obtain
a
common
list
of
molecules
associated
with
the
different
diseases
and
metabolic
pathways
.
The
combined
approach
discussed
here
may
prove
useful
in
the
rapid
screening
of
biological
fluids
from
sick
patients
and
may
help
to
improve
the
understanding
of
these
rare
diseases
.
Diseases
Validation
Diseases presenting
"aciduria"
symptom
adrenomyeloneuropathy
alexander disease
canavan disease
child syndrome
classical phenylketonuria
cohen syndrome
cystinuria
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
x-linked adrenoleukodystrophy
This symptom has already been validated