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Bile acid profiles in a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency.
[neonatal adrenoleukodystrophy]
Bile
acid
profiles
in
serum
,
urine
and
bile
from
an
infant
with
a
peroxisomal
D-
3
-
hydroxyacyl-
CoA
dehydratase
/
D-
3
-
hydroxyacyl-
CoA
dehydrogenase
bifunctional
protein
(
D-
bifunctional
protein
)
deficiency
were
analyzed
by
means
of
gas-liquid
chromatography
,
gas-liquid
chromatography-mass
spectrometry
,
and
high
-performance
liquid
chromatography
.
As
in
such
several
peroxisomal
disorders
as
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
and
infantile
Refsum
disease
,
the
accumulation
of
C
2
7
-
bile
acid
intermediates
was
also
demonstrated
in
the
infant
with
D-
bifunctional
protein
deficiency
,
accounting
for
74
%
of
the
total
bile
acids
in
serum
,
59
%
in
urine
,
and
35
%
in
bile
.
In
addition
,
the
major
constituents
of
the
C
2
7
-
bile
acids
were
(
24
R
,
25
R
)
-
and
(
24
R
,
25
S
)
-
3
alpha
,
7
alpha
,
12
alpha
,
24
-
tetrahydroxy-
5
be
ta-cholestanoic
acids
along
with
small
amounts
of
their
24
S
counterparts
.
Since
immunoreactive
acyl-
CoA
oxidase
,
L-
bifunctional
protein
,
and
thiolase
were
all
present
in
the
liver
,
the
impairment
of
the
oxidative
side-chain
cleavage
in
bile
acid
biosynthesis
is
considered
to
be
due
to
the
defect
of
D-
bifunctional
protein
.
Diseases
Validation
Diseases presenting
"small amounts"
symptom
classical phenylketonuria
neonatal adrenoleukodystrophy
pleomorphic liposarcoma
severe combined immunodeficiency
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