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Plasma and red blood cell fatty acids in peroxisomal disorders.
[neonatal adrenoleukodystrophy]
The
demonstration
of
abnormal
levels
of
fatty
acids
or
plasmalogens
in
plasma
or
red
blood
cells
is
key
to
the
diagnosis
of
peroxisomal
disorders
.
We
report
the
levels
of
62
fatty
acids
and
plasmalogens
in
patients
with
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
,
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
and
infantile
Refsum
disease
(
IRD
)
,
both
at
baseline
and
after
dietary
interventions
.
"
Lorenzo
's
Oil
"
therapy
in
X-
ALD
normalizes
the
levels
of
saturated
very
long
chain
fatty
acids
in
plasma
,
but
leads
to
reduced
levels
of
omega
6
and
other
omega
3
fatty
acids
,
and
requires
monitoring
and
appropriate
dietary
supplements
.
Patients
with
ZS
,
NALD
and
IRD
have
reduced
levels
of
docosahexaenoic
acid
(
DHA
)
and
arachidonic
acid
(
AA
)
which
can
be
normalized
by
the
oral
administration
of
microencapsulated
DHA
and
AA
.
Diseases
Validation
Diseases presenting
"levels of fatty acids or plasmalogens in plasma or red blood cells is key"
symptom
neonatal adrenoleukodystrophy
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