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Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment.
[pyruvate dehydrogenase deficiency]
We
report
the
clinical
features
in
a
4
-
year
-old
child
who
was
investigated
for
a
suspected
metabolic
disorder
but
was
subsequently
diagnosed
as
having
a
pyruvate
dehydrogenase
deficiency
.
A
muscle
biopsy
was
performed
and
the
data
obtained
suggested
thiamine
treatment
which
resulted
in
a
regression
of
the
clinical
findings
and
a
return
to
normal
values
of
blood
lactic
and
pyruvic
acids
.
The
interruption
of
thiamine
supplementation
after
1
year
of
treatment
led
to
a
prompt
recurrence
of
the
previous
clinical
and
biochemical
symptoms
.
Diseases
Validation
Diseases presenting
"suspected metabolic disorder"
symptom
pyruvate dehydrogenase deficiency
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