Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

  • Francois-G. Debray
  • Marie Lambert
  • Michel Vanasse
  • Jean-Claude Decarie
  • Jessie Cameron
  • Valeriy Levandovskiy
  • Brian H. Robinson
  • Grant A. MitchellEmail author
Original Paper


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 E1α subunit (PDHA1). Taken in context with the literature, these patients suggest that acute weakness initially resembling Guillain-Barré syndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH-deficient patients.


Pyruvate dehydrogenase deficiency Intermittent Episodic weakness 



Cerebrospinal fluid


Guillain-Barré syndrome


Nerve conduction velocity


Magnetic resonance imaging


Polymerase chain reaction


Pyruvate dehydrogenase


Annealing temperature


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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Francois-G. Debray
    • 1
  • Marie Lambert
    • 1
  • Michel Vanasse
    • 1
  • Jean-Claude Decarie
    • 1
  • Jessie Cameron
    • 2
  • Valeriy Levandovskiy
    • 2
  • Brian H. Robinson
    • 2
  • Grant A. Mitchell
    • 1
    • 3
    Email author
  1. 1.Divisions of Medical Genetics (FGD, ML, GAM) and Neurology (MV), Department of Pediatrics, and Department of Medical Imaging (JCD)CHU Sainte-Justine, Université de MontréalMontrealCanada
  2. 2.Metabolism Research Program, Research Institute (JC, VL, BHR), Departments of Pediatrics and Biochemistry (BHR), The Hospital for Sick ChildrenUniversity of TorontoTorontoCanada
  3. 3.Hôpital Sainte-JustineMontrealCanada

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