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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

Abstract

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.

Keywords

Pyruvate dehydrogenase deficiency Intermittent Episodic weakness 

Abbreviations

CSF

Cerebrospinal fluid

GBS

Guillain-Barré syndrome

NCV

Nerve conduction velocity

MRI

Magnetic resonance imaging

PCR

Polymerase chain reaction

PDH

Pyruvate dehydrogenase

Ta

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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