Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2010 Jul;14(4):349-53.
doi: 10.1016/j.ejpn.2009.11.001. Epub 2009 Dec 21.

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia

Catherine A McWilliam  1 , Cheryl K Ridout, Ruth M Brown, Robert C McWilliam, John Tolmie, Garry K Brown
Affiliations
Case Reports

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia

Catherine A McWilliam et al. Eur J Paediatr Neurol. 2010 Jul.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

Substances

LinkOut - more resources