Title: Liver diseases in inborn errors of metabolism: bridging pediatric and adult hepatology
Source: Clinics in Liver Disease 2025, 29 (3): 347-369
Date of publication: July 2025
Publication type: Review article
Abstract: Inborn errors of metabolism (IEM) encompasses a diverse group of genetic disorders with profound implications for both pediatric and adult hepatology. Traditionally associated with pediatric populations, these conditions are increasingly recognized in adults, thanks to advancements in diagnostic tools such as whole exome sequencing. This review delves into the pathophysiology, clinical spectrum, diagnostic innovations, and therapeutic strategies for IEM-related liver diseases, offering a comprehensive reference for hepatology practitioners across the lifespan. Through illustrative case studies and actionable clinical frameworks, this article underscores the transformative potential of genomic medicine in shaping the diagnosis, treatment, and understanding of IEM in liver disease.
