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

作者信息

Laxmi Veena, Gunasekaran Pradeep Kumar, Kumar Ashna, Manjunathan Sujatha, Tiwari Sarbesh, Saini Lokesh

机构信息

Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India.

Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

出版信息

Indian J Pediatr. 2024 May;91(5):518. doi: 10.1007/s12098-023-04853-w. Epub 2023 Oct 3.

DOI:10.1007/s12098-023-04853-w
PMID:37787965
Abstract
摘要

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本文引用的文献

1
Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1 Mutation-A Rare Treatable Cause for Episodic Ataxia in Children.因PDHA1突变导致的丙酮酸脱氢酶复合体缺乏症——儿童发作性共济失调的一种罕见可治病因
Indian J Pediatr. 2022 May;89(5):519. doi: 10.1007/s12098-021-04068-x. Epub 2022 Feb 8.
2
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.丙酮酸脱氢酶复合物缺乏症的生酮饮食：短期和长期结果
J Inherit Metab Dis. 2017 Mar;40(2):237-245. doi: 10.1007/s10545-016-0011-5. Epub 2017 Jan 18.
3
Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy.
一名8岁男孩因丙酮酸脱氢酶-E1α缺乏症表现为反复出现的上下肢急性近端肌无力。
Neuromuscul Disord. 2017 Jan;27(1):94-97. doi: 10.1016/j.nmd.2016.11.001. Epub 2016 Nov 9.
4
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症谱：371 例患者的临床、生化和遗传学特征。
Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.