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
"only double blind placebo-controlled study"
symptom
pyruvate dehydrogenase deficiency
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