title: Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
abstract: 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 E2 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 E2 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.
authors.affiliation: Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Dalnair Street, Glasgow, G3 8SJ, UK. cmcwilliam1@nhs.net
authors.forename: Catherine A
authors.initials: CA
authors.lastname: McWilliam
authors.forename: Cheryl K
authors.initials: CK
authors.lastname: Ridout
authors.forename: Ruth M
authors.initials: RM
authors.lastname: Brown
authors.forename: Robert C
authors.initials: RC
authors.lastname: McWilliam
authors.forename: John
authors.initials: J
authors.lastname: Tolmie
authors.forename: Garry K
authors.initials: GK
authors.lastname: Brown
mesh_terms: D001324:Autoantigens / Q000235:genetics; D002478:Cells, Cultured; D002648:Child; D055423:Diet, Ketogenic / Q000379:methods; D051047:Dihydrolipoyllysine-Residue Acetyltransferase / Q000235:genetics; D004421:Dystonia / Q000178:diet therapy / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000473:pathology; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications* / Q000178:diet therapy / Q000473:pathology
chemical_list: D001324:Autoantigens; D024101:Mitochondrial Proteins; C052359:DLAT protein, human; D051047:Dihydrolipoyllysine-Residue Acetyltransferase