Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Diagnostic determination system for high-risk screening for inborn errors of bile acid metabolism based on an analysis of urinary bile acids using gas chromatography-mass spectrometry: results for 10 years in Japan.
[zellweger syndrome]
Some
patients
with
cholestasis
of
unknown
cause
may
have
inborn
errors
of
bile
acid
metabolism
(
IEBAM
)
thus
causing
abnormalities
of
bile
acid
biosynthesis
.
Although
seven
types
of
bile
acid
synthetic
defects
have
thus
far
been
reported
for
this
disorder
,
no
detailed
information
on
its
incidence
and
so
on
in
Japan
is
yet
available
.
In
order
to
elucidate
the
current
status
of
IEBAM
in
Japan
,
in
July
1996
a
diagnostic
determination
system
was
established
for
high
-risk
screening
for
IEBAM
.
Urinary
bile
acids
were
analyzed
on
gas
chromatography-mass
spectrometry
(
GC
-
MS
)
and
quantitative
analysis
was
done
using
selected
ion
monitoring
(
SIM
)
.
In
a
total
of
576
samples
analyzed
over
the
10
year
period
prior
to
June
2005
,
159
patients
were
found
with
cholestasis
of
unknown
etiology
.
Of
these
patients
,
10
(
6
.
3
%
)
were
found
to
have
IEBAM
by
this
system
,
while
91
(
61
.
1
%
)
had
cholestasis
without
a
definitive
diagnosis
.
This
diagnostic
determination
system
with
GC
-
MS
of
urinary
bile
acids
is
therefore
considered
useful
for
detecting
IEBAM
.