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Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
[pyruvate dehydrogenase deficiency]
The
association
of
progressive
episodic
dystonia
and
learning
disability
with
distinctive
neuroimaging
findings
may
lead
to
consideration
of
atypical
Pantothenate
Kinase
Associated
Neurodegeneration
(
PKAN
)
and
investigations
directed
towards
that
diagnosis
.
Recent
reports
indicate
that
deficiency
of
dihydrolipoamide
acetyltransferase
,
the
E
2
component
of
the
pyruvate
dehydrogenase
complex
,
may
present
similarly
,
and
that
this
disorder
should
also
be
considered
in
the
differential
diagnosis
.
We
describe
two
sisters
with
early
onset
episodic
dystonia
and
pyruvate
dehydrogenase
deficiency
caused
by
defects
in
the
E
2
subunit
.
Both
have
neuroimaging
features
similar
to
previously
described
patients
and
have
mutations
in
the
DLAT
gene
.
As
this
condition
is
potentially
treatable
with
a
ketogenic
diet
,
the
possibility
of
this
diagnosis
should
be
considered
in
similar
cases
.
Diseases
Validation
Diseases presenting
"the e2 component of the pyruvate dehydrogenase complex"
symptom
pyruvate dehydrogenase deficiency
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