Inherited Metabolic Disorders: Genetic Insights and Therapeutic Strategies

Dear Colleagues,

Inherited metabolic disorders encompass a broad and complex spectrum of conditions characterized by clinically significant disturbances of metabolic functions driven by a defined genetic cause. The detailed characterization of these disrupted biochemical pathways leads to a deeper understanding of disease pathophysiology, enabling early, precise diagnosis and the identification of promising therapeutic targets. Advancing our genetic insights into these diverse mechanisms is crucial for both identifying novel biomarkers and developing innovative therapeutic interventions—such as metabolite repair, gene therapy, and enzyme replacement—that can restore biochemical homeostasis and answer the complex pathology of metabolic diseases.

This Special Issue, entitled “Inherited Metabolic Disorders: Genetic Insights and Therapeutic Strategies”, of the International Journal of Molecular Sciences aims to provide a platform for the presentation of studies related to the molecular biology, biochemistry, and mechanisms underlying these conditions. Original research articles and review articles that provide an overview of advancements in this field are welcome, particularly those exploring the functional characterization of novel genetic variants, innovative approaches to biochemical and genetic diagnosis, and the translation of fundamental genetics into targeted treatments.

Dr. Fabiano Poswar
Dr. Kristiane Michelin-Tirelli
Guest Editors

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