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Mechanisms of disease: Inborn errors of bile acid synthesis.
[zellweger syndrome]
Inborn
errors
of
bile
acid
synthesis
are
rare
genetic
disorders
that
can
present
as
neonatal
cholestasis
,
neurologic
disease
or
fat-soluble-
vitamin
deficiencies
.
There
are
nine
known
defects
of
bile
acid
synthesis
,
including
oxysterol
7
alpha-hydroxylase
deficiency
,
Delta
(
4
)
-
3
-
oxosteroid-
5
beta
-reductase
deficiency
,
3
beta
-hydroxy-
Delta
(
5
)
-
C
(
27
)
-
steroid
dehydrogenase
deficiency
,
cerebrotendinous
xanthomatosis
(
also
known
as
sterol
27
-
hydroxylase
deficiency
)
,
alpha-methylacyl-
CoA
racemase
deficiency
,
and
Zellweger
syndrome
(
also
known
as
cerebrohepatorenal
syndrome
)
.
These
diseases
are
characterized
by
a
failure
to
produce
normal
bile
acids
and
an
accumulation
of
unusual
bile
acids
and
bile
acid
intermediaries
.
Individuals
with
inborn
errors
of
bile
acid
synthesis
generally
present
with
the
hallmark
features
of
normal
or
low
serum
bile
acid
concentrations
,
normal
gamma-glutamyl
transpeptidase
concentrations
and
the
absence
of
pruritus
.
Failure
to
diagnose
any
of
these
conditions
can
result
in
liver
failure
or
progressive
chronic
liver
disease
.
If
recognized
early
,
many
patients
can
have
a
remarkable
clinical
response
to
oral
bile
acid
therapy
.
Diseases
Validation
Diseases presenting
"rare genetic disorders"
symptom
congenital adrenal hyperplasia
fabry disease
werner syndrome
zellweger syndrome
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