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Docosahexaenoic acid--a new therapeutic approach to peroxisomal-disorder patients: experience with two cases.
[neonatal adrenoleukodystrophy]
Docosahexaenoic
acid
(
DHA
,
22
:
6
omega
3
)
is
a
major
constituent
of
brain
membrane
phospholipids
and
photoreceptor
cells
.
Patients
with
generalized
peroxisomal
disorders
have
extremely
low
levels
of
DHA
in
the
brain
and
other
tissues
.
Since
a
DHA
deficiency
could
explain
some
basic
symptoms
in
peroxisomal-disorder
patients
,
we
tested
the
possible
beneficial
effects
of
DHA
in
two
patients
with
neonatal
adrenoleukodystrophy
(
NALD
)
.
Before
the
treatment
,
both
patients
had
very
low
DHA
levels
in
plasma
and
erythrocytes
.
We
first
gave
DHA
in
the
form
of
fish
oil
and
,
in
both
patients
,
the
rapid
increase
in
red
-cell
DHA
levels
indicated
that
this
fatty
acid
was
being
absorbed
and
incorporated
into
membrane
phospholipids
very
fast
.
However
,
a
low
ratio
22
:
6
omega
3
/
22
:
5
omega
3
was
still
present
in
erythrocyte
membranes
,
and
the
content
of
20
:
5
omega
3
(
eicosapentaenoic
acid
)
was
too
high
with
the
fish
oil
diet
.
We
then
began
treatment
with
pure
DHA
ethyl
ester
and
,
after
a
few
weeks
,
erythrocyte
omega
3
polyunsaturated
fatty
acids
were
normal
.
There
was
an
increase
in
the
18
:
0
molecular
species
of
plasmalogens
in
both
patients
,
most
significantly
in
the
child
with
affected
plasmalogen
biosynthesis
in
cultured
fibroblasts
.
In
the
less
severely
affected
NALD
patient
,
treatment
with
DHA
produced
a
very
significant
decrease
in
the
ratios
24
:
1
/
22
:
0
and
26
:
1
/
22
:
0
,
and
this
child
improved
neurologically
.
The
present
data
suggest
that
DHA
deficiency
may
be
the
cause
for
some
of
the
most
characteristic
abnormalities
in
peroxisomal-disorder
patients
and
open
new
therapeutic
possibilities
for
these
patients
.
Diseases
Validation
Diseases presenting
"that this fatty acid was being absorbed"
symptom
neonatal adrenoleukodystrophy
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