Inborn errors of redox metabolism: an emerging nosology
Philip T Drell1, Lea-Sophie Berendes1, Julien Park1
1Department of General Pediatrics, University Hospital Münster, Münster, Germany.
Trends in Endocrinology and Metabolism: TEM
|June 2, 2026
Summary
Inborn errors of redox metabolism (IERM) are complex genetic disorders. We propose classifying them as primary (redox pathway defects) or secondary (damage from other metabolic issues) to improve research and treatment.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Inborn errors of redox metabolism (IERM) represent a poorly understood and expanding category of diseases.
- Current understanding and therapeutic strategies for IERM are limited due to their complex nature.
Purpose of the Study:
- To propose a novel dichotomous classification system for inborn errors of redox metabolism.
- To differentiate between primary IERM stemming from direct genetic defects in redox pathways and secondary IERM resulting from redox-related damage due to other metabolic abnormalities.
- To provide a framework that can guide future research and clinical approaches to IERM.
Main Methods:
- Conceptual framework development.
- Literature review on redox metabolism and associated disorders.
- Dichotomous classification proposal based on the origin of redox imbalance.
Main Results:
- Proposed classification distinguishes between primary IERM (genetic defects in redox pathways) and secondary IERM (reactive oxygen species-mediated damage from other metabolic defects).
- This classification provides a clearer definition for the heterogeneous group of IERM.
Conclusions:
- The proposed dichotomous classification offers a structured approach to understanding IERM.
- This framework is expected to facilitate targeted research and improve diagnostic and therapeutic strategies for patients with IERM.
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