Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency

A pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders. An abnormal E1-alpha protein originating from the PDHA1 gene with pathogenic variants is unable to communicate with E1-beta for the formati...

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Main Authors: Thi Thanh Ngan Nguyen, Nguyen Ngoc Khanh, Chi Dung Vu, Ngoc-Lan Nguyen, Van Khanh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Duc Quan, Nguyen Thanh Hien, Tran Thi Huong Giang, Nguyen Thi Xuan, Nguyen Thien Tao, Tran Van Khoa, Huy Hoang Nguyen
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Pediatrics
Subjects:
PDHA1
whole-exome sequencing
missense variant
pyruvate dehydrogenase E1-alpha deficiency
Vietnamese
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1494604/full
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