Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Male; Muscle Weakness/etiology; Pyruvate Dehydrogenase Complex Deficiency Disease/complications/diagnosis

Abstract :

[en] Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) due to previously undescribed mutations (Pro250Thr, Arg88Cys) in the gene for the E1alpha subunit (PDHA1). Taken in context with the literature, these patients suggest that acute weakness initially resembling Guillain-Barre syndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH-deficient patients.

Disciplines :

Genetics & genetic processes

Author, co-author :

DEBRAY, François-Guillaume

Lambert, Marie

Vanasse, Michel

Decarie, Jean-Claude

Cameron, Jessie

Levandovskiy, Valeriy

Robinson, Brian H

Mitchell, Grant A

Language :

English

Title :

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

Publication date :

2006

Journal title :

European Journal of Pediatrics

ISSN :

0340-6199

eISSN :

1432-1076

Publisher :

Springer, Germany

Volume :

165

Issue :

Pages :

462-466

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 25 March 2011

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Bibliography

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