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Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea.
[homocystinuria without methylmalonic aciduria]
Seoul
Clinical
Laboratories
began
screening
newborns
and
high
risk
group
blood
spots
with
tandem
mass
spectrometry
(
MS
/
MS
)
in
April
2001
.
The
goal
was
to
determine
approximate
prevalence
of
metabolic
disorders
and
optimization
of
decision
criteria
for
estimation
of
preventive
effect
with
early
diagnosis
.
Approximately
44
,
300
neonates
and
children
were
screened
and
the
estimated
prevalence
(
newborn
/
high
risk
group
)
,
sensitivity
,
specificity
and
recall
rate
amounted
to
1
:
2000
/
1
:
1250
,
94
.
1
%
,
99
.
7
%
,
and
0
.
04
%
,
respectively
.
Confirmed
35
multiple
metabolic
disorders
(
newborn
/
high
risk
)
were
as
follows
;
16
amino
acid
disorders
[
classical
PKU
(
3
/
4
)
,
BH
4
deficient
-
hyperphenylalaninemia
(
0
/
1
)
,
Citrullinemia
(
2
/
0
)
,
Homocystinuria
(
0
/
2
)
,
Hypermethioninemia
(
0
/
1
)
,
Tyrosinemia
(
1
/
0
)
]
,
OTC
deficiency
(
0
/
1
)
,
MSUD
(
2
/
0
)
,
10
organic
acidurias
[
Propionic
aciduria
(
2
/
1
)
,
Methylmalonic
aciduria
(
0
/
1
)
,
Isovaleric
aciduria
(
2
/
1
)
,
3
-
methylcrotonylglycineuria
(
1
/
0
)
,
Glutaric
aciduria
type
1
(
2
/
0
)
]
,
9
fatty
acid
oxidation
disorders
[
LCHAD
def
.
(
2
/
2
)
,
Mitochondrial
TFP
def
.
(
0
/
1
)
,
VLCAD
def
.
(
1
/
0
)
,
LC
3
KT
def
.
(
0
/
1
)
,
SCAD
def
(
1
/
0
)
,
MADD
def
(
0
/
1
)
.
The
relatively
normal
development
of
15
patients
with
metabolic
disorders
among
newborns
(
except
for
the
expired
)
demonstrates
the
usefulness
of
newborn
screening
by
MS
/
MS
for
early
diagnosis
and
medical
intervention
.
However
,
close
coordination
between
the
MS
/
MS
screening
laboratory
and
the
metabolic
clinic
/
biochemical
geneticists
is
needed
to
determine
proper
decision
of
screening
parameters
,
confirmation
diagnosis
,
follow-up
scheme
and
additional
tests
.
Diseases
Validation
Diseases presenting
"tyrosinemia"
symptom
homocystinuria without methylmalonic aciduria
primary hyperoxaluria type 1
This symptom has already been validated