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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
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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