Article (Scientific journals)
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.
DEBRAY, François-Guillaume; Lambert, Marie; Vanasse, Michel et al.
2006In European Journal of Pediatrics, 165 (7), p. 462-466
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Keywords :
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 :
7
Pages :
462-466
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 25 March 2011

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