ArticleEuropean journal of pediatrics2006
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.
Article in European journal of pediatrics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 29 citations in OpenAlex.
- Integrative metabolomics reveals unique metabolic traits in Guillain-Barré Syndrome and its variants.Scientific reports · 2019Trial
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function.Journal of chemical information and modeling · 2022Article
- Update on Neuropathies in Inborn Errors of Metabolism.Brain sciences · 2021Review
- Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation.JIMD reports · 2013Article
- The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Molecular genetics and metabolism · 2012Article
- The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Molecular genetics and metabolism · 2012Review
- Inborn errors of metabolism and motor disturbances in children.Journal of inherited metabolic disease · 2009Review
- Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.Journal of inherited metabolic disease · 2008Article
- Peripheral neuropathy and inborn errors of metabolism in adults.Journal of inherited metabolic disease · 2007Review
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 E1alpha 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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Registered trials
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