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A random Abstract
Our Project
Our Team
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].
[homocystinuria without methylmalonic aciduria]
To
investigate
the
effects
of
tandem
mass
spectrometry
(
MS
/
MS
)
combined
with
gas
chromatography
mass
spectrometry
(
GC
-
MS
)
in
the
diagnosis
of
inborn
errors
of
metabolism
in
children
.
Amino
acids
and
acylcarnitines
in
the
dry
blood
filter
papers
were
tested
by
MS
/
MS
,
and
the
organic
acid
profiles
in
urea
were
tested
by
GC
-
MS
among
4981
children
suspected
to
be
with
inborn
errors
of
metabolism
from
more
than
100
hospitals
in
China
.
A
few
pediatric
patients
underwent
analysis
of
activity
of
enzyme
and
gene
mutation
analysis
too
.
319
of
the
4981
children
(
6
.
4
%
)
were
diagnosed
as
with
24
kinds
of
diseases
:
155
of
the
319
cases
(
48
.
6
%
)
with
8
kinds
of
amino
acid
diseases
(
97
with
hyperphenylalaninemia
,
14
with
maple
syrup
urine
disease
13
with
ornithine
transcarbamylase
deficiency
,
13
with
citrullinemia
type
II
,
10
with
tyrosinemia
type
I
,
5
with
citrullinemia
type
I
,
2
with
homocystinuria
,
and
1
with
arginasemia
)
;
150
of
the
319
cases
(
47
.
0
%
)
were
diagnosed
as
with
10
kinds
of
organic
acidemias
(
81
with
methylmalonic
acidemia
,
17
with
propionic
acidemia
,
17
with
multiple
CoA
carboxylase
deficiency
,
11
with
glutaric
acidemia
type
II
,
8
with
isovaleric
acidemia
,
6
with
beta
-keto
thiolase
deficiency
,
5
with
3
-
methylcrotonyl-
CoA
carboxylase
deficiency
,
and
3
with
3
-
hydroxy-
3
-
methylglutaryl-
CoA
lyase
deficiency
)
;
14
cases
(
4
.
4
%
)
were
diagnosed
as
with
6
kinds
of
fatty
acid
disorders
(
5
with
medium
chain
acyl-
CoA
dehydrogenase
deficiency
,
3
with
very
long
chain
acyl
CoA
dehydrogenase
deficiency
,
2
with
short
chain
acyl-
CoA
dehydrogenase
deficiency
,
2
with
multiple
acyl-
CoA
dehydrogenase
deficiency
,
1
with
carnitine
palmitoyl
transferase
type
II
,
and
1
with
carnitine
palmitoyl
transferase
type
I
)
.
MS
/
MS
is
specific
for
amino
acid
diseases
and
fatty
acid
disorders
.
GC
-
MS
is
specific
for
detect
organic
acidemias
.
And
the
diagnoses
of
part
of
amino
acid
diseases
need
the
combination
of
both
methods
.
Diseases
Validation
Diseases presenting
"tyrosinemia"
symptom
homocystinuria without methylmalonic aciduria
primary hyperoxaluria type 1
This symptom has already been validated