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Incidence of peroxisomal disorders in Japan.
[neonatal adrenoleukodystrophy]
Japanese
patients
with
peroxisomal
disorders
in
the
pediatric
field
were
screened
.
Very
long
chain
fatty
acid
analysis
in
the
serum
sphingomyelin
was
introduced
since
1987
and
was
useful
for
the
first
screening
of
peroxisomal
disorders
.
Seventy
-
five
patients
were
diagnosed
since
1980
:
15
patients
with
Zellweger
syndrome
,
2
with
neonatal
adrenoleukodystrophy
(
ALD
)
,
1
with
rhizomelic
chondrodysplasia
punctata
,
1
with
Zellweger-like
syndrome
.
2
with
acyl-
CoA
oxidase
deficiency
,
2
with
bifunctional
enzyme
deficiency
and
52
with
X-
linked
ALD
.
The
incidence
of
peroxisome-
deficient
disorders
was
estimated
to
be
approximately
1
in
800
,
000
births
which
is
far
less
than
that
in
the
USA
.
However
,
the
incidence
in
Okinawa
Islands
was
1
in
30
,
000
.
Japanese
Zellweger
patients
belonged
to
5
complementation
groups
(
A
,
B
,
C
,
E
,
F
)
and
the
patients
in
Okinawa
Islands
belonged
to
groups
A
and
C
.
The
results
of
this
screening
were
useful
for
genetic
counseling
,
prenatal
diagnosis
,
carrier
detection
and
early
medical
care
of
patients
with
peroxisomal
disorders
.
Diseases
Validation
Diseases presenting
"first screening"
symptom
neonatal adrenoleukodystrophy
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