A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

Abstract Background Pyruvate dehydrogenase (PDH) deficiency is an uncommon condition responsible for primary refractory lactic acidosis, and PDH E1β (PDHB) subunit gene mutation rarely causes of PDH deficiency. We described a missense mutation of PDHB gene in a neonate with PDH deficiency, and verif...

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Bibliographic Details

Published in:	Italian Journal of Pediatrics
Main Authors:	Ying Li, Lin Cheng, Xin Li, Jiyu Liu, Lu Yi, Tao Bo
Format:	Article
Language:	English
Published:	BMC 2025-03-01
Subjects:	PDH Pyruvate dehydrogenase deficiency E1 β subunit PDHB gene Mutations Lactic acidosis
Online Access:	https://doi.org/10.1186/s13052-025-01917-9