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Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment.
[pyruvate dehydrogenase deficiency]
This
article
describes
a
case
of
pyruvate
dehydrogenase
deficiency
in
a
3
-
year
-old
boy
who
presented
generalized
hypotonia
,
severe
psychomotor
development
delay
,
and
generalized
and
partial
seizures
and
was
refractory
to
antiepileptic
drugs
.
After
the
diagnosis
,
the
patient
was
put
on
a
ketogenic
diet
.
Six
months
later
,
seizure
frequency
was
reduced
and
psychomotor
development
had
improved
.
At
the
same
time
he
presented
some
side
effects
,
such
as
2
episodes
of
significant
increases
in
cholesterol
and
triglycerides
associated
with
viral
respiratory
infections
.
The
latter
decreased
with
a
supplementation
of
ω-
3
fatty
acids
and
an
increase
in
caloric
intake
.