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[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China].
[homocystinuria without methylmalonic aciduria]
The
new
technology
of
tandem
mass
spectrometry
is
exerting
a
significant
impact
on
the
diagnostics
of
inborn
metabolic
errors
,
and
allows
to
detect
a
number
of
these
disorders
in
a
single
step
.
The
aim
of
the
present
study
was
to
establish
a
dry
blood
filter
paper
method
for
amino
acid
and
acylcarnitine
profiles
test
using
tandem
mass
spectrometry
and
to
apply
the
method
for
selective
screening
in
high
risk
children
with
inborn
error
of
metabolism
.
The
study
group
consisted
of
104
high
risk
cases
of
inborn
error
of
metabolism
from
5
pediatric
hospitals
in
Shanghai
and
Beijing
were
tested
from
November
2002
to
June
2003
;
77
were
males
and
27
females
,
the
means
age
was
4
.
8
+
/
-
4
.
2
years
.
These
patients
had
mental
retardation
,
slow
development
,
psychological
abnormalities
,
muscle
hypotonia
,
jaundice
,
hepatosplenomegaly
,
recurrent
vomiting
,
and
convulsion
.
Laboratory
examinations
suggested
metabolic
acidosis
,
hypoglycemia
,
hyperammonemia
and
hyperlactacidemia
.
Phenylketonuria
was
excluded
in
this
study
by
routine
phenylalanine
screening
.
The
control
group
consisted
of
308
children
,
170
males
and
138
females
.
The
blood
was
collected
on
filter
paper
,
punched
and
extracted
into
methanol
solution
with
stable
isotope
labeled
internal
standards
,
then
derivatized
with
butanolic-
HCl
.
After
preparation
,
the
samples
were
analyzed
by
tandem
mass
spectrometry
(
API
2000
)
.
Ten
of
104
patients
(
9
.
6
%
)
were
positive
in
our
selective
screening
program
,
including
one
with
tyrosinemia
,
one
with
homocystinuria
,
one
with
hyperornithinemia
,
two
with
methylmalonic
acidemia
,
one
with
propionic
acidemia
,
one
with
3
-
hydroxy-
3
-
methylglutaryl-
CoA
lyase
deficiency
,
two
with
medium
chain
acyl-
CoA
dehydrogenase
deficiency
,
and
one
with
carnitine
palmitoyl
transferase
type
II
deficiency
.
T
he
authors
established
a
fast
,
accurate
and
sensitive
tandem
mass
spectrometry
method
for
amino
acid
and
acylcarnitine
profiles
analysis
,
nearly
30
metabolic
diseases
including
amino
acid
disorders
,
organic
acid
disorders
and
fatty
acid
oxidation
disorders
could
be
detected
,
most
of
the
diseases
that
cause
death
and
disability
represent
preventable
entities
by
early
diagnosis
and
treatment
.
The
results
indicated
the
importance
of
selective
screening
for
high
risk
patients
with
inborn
error
of
metabolism
.
Diseases
Validation
Diseases presenting
"one with 3"
symptom
homocystinuria without methylmalonic aciduria
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