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Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

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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.

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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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Authors and Affiliations

  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 Montréal, 3175 Côte Sainte-Catherine, Montreal, Québec, H3T 1C5, Canada

    Francois-G. Debray, Marie Lambert, Michel Vanasse, Jean-Claude Decarie & Grant A. Mitchell

  2. Metabolism Research Program, Research Institute (JC, VL, BHR), Departments of Pediatrics and Biochemistry (BHR), The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada

    Jessie Cameron, Valeriy Levandovskiy & Brian H. Robinson

  3. Hôpital Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal, Québec, H3T 1C5, Canada

    Grant A. Mitchell

Authors
  1. Francois-G. Debray
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  2. Marie Lambert
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  3. Michel Vanasse
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  4. Jean-Claude Decarie
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  5. Jessie Cameron
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  6. Valeriy Levandovskiy
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  7. Brian H. Robinson
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  8. Grant A. Mitchell
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Correspondence to Grant A. Mitchell.

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Debray, FG., Lambert, M., Vanasse, M. et al. Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency. Eur J Pediatr 165, 462–466 (2006). https://doi.org/10.1007/s00431-006-0104-5

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  • DOI: https://doi.org/10.1007/s00431-006-0104-5

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