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

التفاصيل البيبلوغرافية
العنوان:	Acute Flaccid Paralysis due to Pyruvate Dehydrogenase E1-Alpha Deficiency.
المؤلفون:	Laxmi V; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Gunasekaran PK; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Kumar A; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Manjunathan S; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Tiwari S; Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India., Saini L; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India. drlokeshsaini@gmail.com.
المصدر:	Indian journal of pediatrics [Indian J Pediatr] 2024 May; Vol. 91 (5), pp. 518. Date of Electronic Publication: 2023 Oct 03.
نوع المنشور:	Letter
اللغة:	English
بيانات الدورية:	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
أسماء مطبوعة:	Publication: [Mumbai] : Dr. K. C. Chaudhuri Foundation, co-published by Springer India Original Publication: New Delhi : All India Institute Of Medical Sciences
مواضيع طبية MeSH:	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)
المشرفين على المادة:	EC 1.2.4.1 (Pyruvate Dehydrogenase (Lipoamide))
SCR Disease Name:	Pyruvate Dehydrogenase E1 Alpha Deficiency; acute flaccid myelitis
تواريخ الأحداث:	Date Created: 20231003 Date Completed: 20240419 Latest Revision: 20240419
رمز التحديث:	20240419
DOI:	10.1007/s12098-023-04853-w
PMID:	37787965
قاعدة البيانات:	MEDLINE

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تدمد:	0973-7693
DOI:	10.1007/s12098-023-04853-w