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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
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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