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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
.
Diseases
Validation
Diseases presenting
"psychomotor development"
symptom
alexander disease
canavan disease
classical phenylketonuria
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
monosomy 21
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
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