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[Asymptomatic carnitine depletion on ketogenic diet in patients with pharmacoresistant epilepsies].
[pyruvate dehydrogenase deficiency]
The
ketogenic
diet
(
KD
)
is
a
nutritional
therapy
for
the
treatment
of
epilepsies
and
certain
metabolic
disorders
like
the
glucose-transporter-
deficiency
or
the
pyruvate-dehydrogenase-
deficiency
.
The
basis
of
the
ketogenic
diet
is
the
change
of
energy
metabolism
to
utilisation
of
fatty
acids
and
their
metabolites
,
ketonic
bodies
.
Carnitines
,
which
play
an
important
role
in
transport
and
elimination
of
fatty
acids
,
are
essential
for
effective
ketogenesis
.
Carnitine
deficiency
is
described
on
ketogenic
diet
.
The
aim
of
this
study
is
to
evaluate
when
to
expect
a
carnitine-
deficiency
during
KD
.
The
carnitine
levels
of
19
patients
aged
1
.
4
to
8
.
5
years
(
median
4
.
0
years
)
,
who
were
treated
with
ketogenic
diet
because
of
pharmacoresistent
epilepsy
,
were
evaluated
retrospectively
.
Carnitine
deficiency
during
KD
was
detected
in
26
%
of
the
patients
and
in
57
%
of
the
patients
without
carnitine
substitution
.
Decreased
carnitine
level
occurred
also
with
carnitine
substitution
independent
from
additional
valproat
therapy
.
The
time
of
appearance
of
carnitine
deficiency
on
KD
was
between
3
days
and
248
weeks
(
median
32
weeks
)
.
Regular
controls
of
carnitine
levels
should
be
performed
during
the
treatment
with
ketogenic
diet
,
both
at
the
beginning
and
during
longterm-therapy
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated