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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
"muscle biopsy"
symptom
cadasil
canavan disease
cohen syndrome
epidermolysis bullosa simplex
familial mediterranean fever
focal myositis
inclusion body myositis
neuralgic amyotrophy
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
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