Acute Flaccid Paralysis due to Pyruvate Dehydrogenase E1-Alpha Deficiency.

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  • Additional Information
    • Source:
      Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE
    • Publication Information:
      Publication: [Mumbai] : Dr. K. C. Chaudhuri Foundation, co-published by Springer India
      Original Publication: New Delhi : All India Institute Of Medical Sciences
    • Subject Terms:
      Pyruvate Dehydrogenase Complex Deficiency Disease* ; Acidosis, Lactic* ; Myelitis* ; Neuromuscular Diseases* ; Central Nervous System Viral Diseases*; Pyruvate Dehydrogenase (Lipoamide)/*deficiency; Humans
    • References:
      Patel KP, O’Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012;106:385–94. (PMID: 10.1016/j.ymgme.2012.03.017228968514003492)
      Kara B, Genç HM, Uyur-Yalçın E, et al. Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy. Neuromuscul Disord. 2017;27:94–7. (PMID: 10.1016/j.nmd.2016.11.00127894792)
      Pavuluri H, Alfiya F, Menon RN, Nair SS, Sundaram S. Pyruvate dehydrogenase complex deficiency due to PDHA1 mutation-a rare treatable cause for episodic ataxia in children. Indian J Pediatr. 2022;89:519. (PMID: 10.1007/s12098-021-04068-x35132535)
      Sofou K, Dahlin M, Hallböök T, Lindefeldt M, Viggedal G, Darin N. Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes. J Inherit Metab Dis. 2017;40:237–45. (PMID: 10.1007/s10545-016-0011-5281018055306430)
    • Accession Number:
      EC 1.2.4.1 (Pyruvate Dehydrogenase (Lipoamide))
    • Subject Terms:
      Pyruvate Dehydrogenase E1 Alpha Deficiency; acute flaccid myelitis
    • Publication Date:
      Date Created: 20231003 Date Completed: 20240419 Latest Revision: 20240419
    • Publication Date:
      20240419
    • Accession Number:
      10.1007/s12098-023-04853-w
    • Accession Number:
      37787965