Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in <i>PGM1</i> and <i>NDUFA13</i>

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in <i>PGM1</i> and <i>NDUFA13</i>

Inherited metabolic disorders (IMDs) are genetic disorders that occur in as many as 1:2500 births worldwide. Nevertheless, they are quite rare individually and even more rare is the co-occurrence of two IMDs in one individual. To better understand the metabolic cross-talk between glycosylation chang...

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Bibliographic Details
Main Authors: Silvia Radenkovic, Isabelle Adant, Matthew J. Bird, Johannes V. Swinnen, David Cassiman, Tamas Kozicz, Sarah C. Gruenert, Bart Ghesquière, Eva Morava
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Cells
Subjects:
congenital disorder of glycosylation
Leigh syndrome
inborn errors of metabolism
PGM1
NDUFA13
metabolomics
Online Access:https://www.mdpi.com/2073-4409/14/9/638
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