Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy

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• 作者：Bü ; lent Kara^a ; ^{bkuskudar@gmail.com} ; Hü ; lya Maraş Genç ; ^a ; Emek Uyur-Yalç ; ın^a ; Ayfer Sakarya-Gü ; neş^a ; Uğur Topç ; u^a ; Serap Mü ; layim^b ; Serdar Ceylaner^c
• 关键词：Pyruvate dehydrogenase-E1α deficiency ; PDHA1gene ; Acute weakness ; Guillain&ndash ; Barré ; syndrome-like disease ; Proximal muscle weakness
• 刊名：Neuromuscular Disorders
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：27
• 期：1
• 页码：94-97
• 全文大小：614 K
• 卷排序：27

文摘

Pyruvate dehydrogenase complex (PDHC) deficiency has a broad clinical presentation. Recurrent weakness is a rare form of PDHC deficiency. PDHC deficiency may cause acute weakness. Thiamine may improve acute weakness due to PDHC deficiency. Thiamine may prevent recurrent weakness due to PDHC deficiency.