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Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
a
genetic
disorder
of
X-
linked
inheritance
caused
by
a
mutation
in
the
ABCD
1
gene
which
determines
an
accumulation
of
long
-chain
fatty
acids
in
plasma
and
tissues
.
Recent
evidence
shows
that
oxidative
stress
may
be
a
hallmark
in
the
pathogenesis
of
X-
ALD
and
glutathione
plays
an
important
role
in
the
defense
against
free
radicals
.
In
this
study
we
have
analyzed
glutathione
homeostasis
in
lymphocytes
of
14
patients
with
X-
ALD
and
evaluated
the
balance
between
oxidized
and
reduced
forms
of
glutathione
,
in
order
to
define
the
role
of
this
crucial
redox
marker
in
this
condition
.
Lymphocytes
,
plasma
and
erythrocytes
were
obtained
from
the
whole
blood
of
14
subjects
with
X-
ALD
and
in
30
healthy
subjects
.
Total
,
reduced
and
protein-bound
glutathione
levels
were
measured
in
lymphocytes
by
HPLC
analysis
.
Erythrocyte
free
glutathione
and
antioxidant
enzyme
activities
,
plasma
thiols
and
carbonyl
content
were
determined
by
spectrophotometric
assays
.
A
significant
decrease
of
total
and
reduced
glutathione
was
found
in
lymphocytes
of
patients
,
associated
to
high
levels
of
all
oxidized
glutathione
forms
.
A
decline
of
free
glutathione
was
particularly
significant
in
erythrocytes
.
The
increased
oxidative
stress
in
X-
ALD
was
additionally
confirmed
by
the
decrease
of
plasma
thiols
and
the
high
level
of
carbonyls
.
O
ur
results
strongly
support
a
role
for
oxidative
stress
in
the
pathophysiology
of
X-
ALD
and
strengthen
the
importance
of
the
balance
among
glutathione
forms
as
a
hallmark
and
a
potential
biomarker
of
the
disease
.
Diseases
Validation
Diseases presenting
"high level"
symptom
22q11.2 deletion syndrome
aniridia
cadasil
carcinoma of the gallbladder
cohen syndrome
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
hodgkin lymphoma, classical
inclusion body myositis
liposarcoma
lymphangioleiomyomatosis
omenn syndrome
oral submucous fibrosis
pyomyositis
scrub typhus
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
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