{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T04:49:12Z","timestamp":1782535752417,"version":"3.54.5"},"reference-count":15,"publisher":"Georg Thieme Verlag KG","issue":"03","funder":[{"name":"AFM grant","award":["22431"],"award-info":[{"award-number":["22431"]}]},{"name":"Italian Ministry of Health, Ricerca Corrente","award":["2021 5\u2009\u00d7\u20091000"],"award-info":[{"award-number":["2021 5\u2009\u00d7\u20091000"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Introduction\u2003Pyruvate dehydrogenase complex (PDH) deficiency (Online Mendelian Inheritance in Man # 312170) is a relatively common mitochondrial disorder, caused by mutations in the X-linked PDHA1 gene and presenting with a variable phenotypic spectrum, ranging from severe infantile encephalopathy to milder chronic neurological disorders.<\/jats:p><jats:p>Isolated peripheral neuropathy as predominant clinical presentation is uncommon.<\/jats:p><jats:p>\n          Results\u2003We report on a patient, now 21 years old, presenting at the age of 2 years with recurrent symmetric weakness as first symptom of a PDH deficiency. Neurophysiological evaluation proving a sensory-motor polyneuropathy with conduction blocks and presence of elevated cerebrospinal fluid proteins, suggested a chronic inflammatory demyelinating polyneuropathy. The evidence of high serum lactate and the alterations in oxidative metabolism in muscle biopsy pointed toward the final diagnosis. After starting nutritional supplements, no further episodes occurred. A hemizygous mutation in PDHA1 (p.Arg88Cys) was identified. This mutation has been previously described in five patients with a similar phenotype. A three-dimensional reconstruction demonstrated that mutations affecting this arginine destabilize the interactions between the subunits of the E1 complex.<\/jats:p><jats:p>\n          Conclusion\u2003We summarize the clinical and genetic characteristics of one patient with PDH deficiency presenting isolated peripheral nervous system involvement. This study highlights that the diagnosis of PDH deficiency should be considered in children with unexplained peripheral neuropathy, even with features suggestive of acquired forms, especially in case of early onset and limited response to treatment. A simple analysis of lactic acid could help to target the diagnosis.<\/jats:p><jats:p>In addition, we suggest that the residue Arg88 is the most frequently involved in this specific phenotype of PDH deficiency.<\/jats:p>","DOI":"10.1055\/a-2018-4845","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T23:58:50Z","timestamp":1674604730000},"page":"211-216","source":"Crossref","is-referenced-by-count":3,"title":["Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency"],"prefix":"10.1055","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0594-6685","authenticated-orcid":false,"given":"Carolina","family":"Croci","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Cataldi","sequence":"additional","affiliation":[{"name":"Department of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Baratto","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genova, Italy"},{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Trucco","sequence":"additional","affiliation":[{"name":"Department of Neurorehabilitation, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Doccini","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Romano","sequence":"additional","affiliation":[{"name":"Experimental Neuropathology Unit, Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele Scientific Institute, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Nesti","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genova, Italy"},{"name":"Department of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,3,7]]},"reference":[{"key":"ref1","volume-title":"Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17","author":"R Ganetzky","year":"1993"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ymgme.2011.09.032","article-title":"The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients","volume":"105","author":"K P Patel","year":"2012","journal-title":"Mol Genet Metab"},{"issue":"03","key":"ref3","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1055\/s-2006-924555","article-title":"Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex","volume":"37","author":"H M Strassburg","year":"2006","journal-title":"Neuropediatrics"},{"issue":"05","key":"ref4","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.ejpn.2015.04.008","article-title":"Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. 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Structural implications of novel amino acid substitutions in E1 protein","volume":"104","author":"A Imbard","year":"2011","journal-title":"Mol Genet Metab"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2018-4845.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T00:12:48Z","timestamp":1683591168000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2018-4845"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,24]]},"references-count":15,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2023,5,8]]},"published-print":{"date-parts":[[2023,6]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2018-4845","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,1,24]]},"published":{"date-parts":[[2023,1,24]]}}}