Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Inherited disorders of fatty alcohol metabolism.
[neonatal adrenoleukodystrophy]
The
importance
of
long
-chain
aliphatic
alcohols
to
human
biology
has
recently
been
emphasized
by
the
discovery
of
several
inborn
errors
of
fatty
alcohol
metabolism
.
These
inherited
diseases
include
isolated
defects
in
the
oxidation
of
fatty
alcohol
to
fatty
acid
(
Sjögren-
Larsson
syndrome
)
and
deficient
incorporation
of
fatty
alcohol
into
ether
lipids
(
isolated
alkyl
dihydroxyacetone
phosphate
synthase
deficiency
)
.
In
addition
,
disorders
of
peroxisomal
biogenesis
(
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
infantile
Refsum
disease
)
and
peroxisomal
protein
import
(
rhizomelic
chondrodysplasia
punctata
)
have
impaired
ether
lipid
synthesis
along
with
other
associated
defects
in
peroxisomal
metabolism
.
All
of
the
inherited
disorders
of
fatty
alcohol
metabolism
are
associated
with
severe
neurologic
disease
,
but
the
contribution
of
tissue
fatty
alcohol
accumulation
to
the
pathogenesis
is
not
clear
.
Molecular
genetic
studies
have
recently
identified
many
of
the
disease-causing
mutations
in
these
disorders
,
which
should
lead
to
more
accurate
diagnosis
and
genetic
counseling
.
Although
prenatal
diagnosis
offers
a
method
for
preventing
these
genetic
diseases
,
no
effective
therapy
exists
to
alleviate
the
symptoms
.
