Rare Diseases Symptoms Automatic Extraction
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Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.
[pyruvate dehydrogenase deficiency]
Two
individuals
with
pyruvate
dehydrogenase
(
PDH
)
deficiency
due
to
missense
mutations
in
the
gene
for
the
E
1
alpha
subunit
(
PDHA
1
)
presented
during
childhood
with
dystonia
.
The
first
patient
,
a
male
,
presented
at
age
4
years
with
dystonia
affecting
the
lower
limbs
,
which
responded
to
treatment
with
combined
carbidopa
and
levodopa
.
The
second
patient
,
a
female
,
was
first
investigated
at
age
6
years
because
of
a
dystonic
gait
disorder
.
In
both
patients
,
the
main
clue
to
the
biochemical
diagnosis
was
a
raised
concentration
of
lactate
in
the
cerebrospinal
fluid
.
PDH
activity
was
significantly
reduced
in
cultured
fibroblasts
in
both
cases
.
Dystonia
is
a
previously
unrecognized
major
manifestation
of
PDH
deficiency
and
is
of
particular
interest
as
the
mutations
in
the
PDHA
1
gene
in
these
patients
have
both
been
identified
previously
in
individuals
with
typical
presentations
of
the
condition
.
