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 "episodic dystonia" symptom

pyruvate dehydrogenase deficiency

This symptom has already been validated