Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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[Treatment of mitochondrial diseases].
[pyruvate dehydrogenase deficiency]
Until
gene
therapy
is
perfected
,
developed
should
reaching
for
a
curative
treatment
of
mitochondrial
diseases
in
a
next
future
,
the
present
management
of
these
metabolic
disorders
is
directed
to
obtain
the
optimum
energetic
efficiency
of
dysfunctional
mitochondria
.
Among
other
general
measures
the
patient
must
avoid
fever
,
exhausting
exercise
and
drugs
that
inhibit
mitochondrial
metabolism
.
Dietetic
restrictions
are
more
useful
in
lipidic
disorders
,
such
as
fatty
acid
oxidation
or
carnitine
cycle
defects
,
in
which
diets
free
of
long
chain
and
very
long
chain
fatty
acids
are
recommended
.
Pharmacological
therapy
should
always
be
attempted
,
since
some
patients
may
experience
a
beneficial
response
.
In
respiratory
chain
deficits
,
coenzyme
Q
is
the
most
widely
used
drug
,
although
in
the
only
double
blind
placebo-controlled
study
performed
,
results
were
contradictory
.
In
isolated
cases
,
vitamins
K
3
,
B
2
,
C
and
E
have
been
useful
.
Exogenous
carnitine
treatment
may
improve
symptoms
(
sometimes
dramatically
)
in
patients
with
primary
or
secondary
carnitine
deficit
.
Dichloroacetate
administration
has
a
mild
benefit
in
some
cases
of
Leigh
disease
due
to
pyruvate
dehydrogenase
deficiency
.
Finally
,
sustained
aerobic
exercise
may
ameliorate
symptoms
of
exercise
intolerance
due
to
mitochondrial
dysfunction
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated