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Sterol metabolism disorders and neurodevelopment-an update.
[child syndrome]
Cholesterol
has
numerous
quintessential
functions
in
normal
cell
physiology
,
as
well
as
in
embryonic
and
postnatal
development
.
It
is
a
major
component
of
cell
membranes
and
myelin
,
and
is
a
precursor
of
steroid
hormones
and
bile
acids
.
The
development
of
the
blood
brain
barrier
likely
around
12
-
18
weeks
of
human
gestation
makes
the
developing
embryonic
/
fetal
brain
dependent
on
endogenous
cholesterol
synthesis
.
Known
enzyme
defects
along
the
cholesterol
biosynthetic
pathway
result
in
a
host
of
neurodevelopmental
and
behavioral
findings
along
with
CNS
structural
anomalies
.
In
this
article
,
we
review
sterol
synthesis
disorders
in
the
pre-
and
post-squalene
pathway
highlighting
neurodevelopmental
aspects
that
underlie
the
clinical
presentations
and
course
of
Smith-
Lemli-
Opitz
Syndrome
(
SLOS
)
,
mevalonic
aciduria
(
MVA
)
or
the
milder
version
hyper-immunoglobulinemia
D
and
periodic
fever
syndrome
(
HIDS
)
,
Antley-
Bixler
syndrome
with
genital
anomalies
and
disordered
steroidogenesis
(
ABS
1
)
,
congenital
hemidysplasia
with
icthyosiform
nevus
and
limb
defects
(
CHILD
)
syndrome
,
CK
syndrome
,
sterol
C
4
methyl
oxidase
(
SC
4
MOL
)
deficiency
,
X-
linked
dominant
chondrodysplasia
punctata
2
(
CDPX
2
)
/
Conradi
Hunermann
syndrome
,
lathosterolosis
and
desmosterolosis
,
We
also
discuss
current
controversies
and
share
thoughts
on
future
directions
in
the
field
.
Diseases
Validation
Diseases presenting
"limb defects"
symptom
child syndrome
holt-oram syndrome
kallmann syndrome
proteus syndrome
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