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Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

Francois-G Debray1, Marie Lambert, Michel Vanasse

  • 1Division of Medical Genetics, CHU Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Montreal, Québec, H3T 1C5, Canada.

European Journal of Pediatrics
|March 23, 2006
PubMed

Insights

Pyruvate dehydrogenase (PDH) deficiency can cause episodic peripheral weakness, mimicking Guillain-Barré syndrome. Early diagnosis and nerve evaluation are crucial for managing this underdiagnosed condition.

Area of Science:

  • Biochemistry and Genetics
  • Neurology and Metabolic Disorders

Background:

  • Pyruvate dehydrogenase (PDH) deficiency is a rare genetic metabolic disorder affecting cellular energy production.
  • Its clinical manifestations can be diverse, often leading to diagnostic challenges.

Observation:

  • Two unrelated children presented with recurrent, isolated peripheral weakness.
  • These episodes initially resembled Guillain-Barré syndrome, a neurological disorder affecting the peripheral nervous system.

Findings:

  • Genetic analysis revealed previously undescribed mutations (Pro250Thr, Arg88Cys) in the PDHA1 gene, encoding the E1alpha subunit of PDH.
  • This confirmed a diagnosis of pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) in both patients.
  • The findings link specific PDHA1 mutations to peripheral neuropathy symptoms.

Implications:

  • Episodic peripheral weakness may be an underdiagnosed and potentially reversible manifestation of PDH deficiency.
  • Peripheral nerve function evaluation is recommended for patients diagnosed with PDH deficiency.
  • This study expands the understanding of PDH deficiency's clinical spectrum and diagnostic considerations.

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