Related Experiment Video
Updated: Sep 15, 2025

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine
Published on: November 4, 2018
Liver Diseases in Inborn Errors of Metabolism: Bridging Pediatric and Adult Hepatology
Noor Ul Ain1, Nima Fattahi1, Dhanpat Jain2
1Department of Internal Medicine, Yale University School of Medicine, PO Box 208019, New Haven, CT 06520-8019, USA.
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.
Related Concept Videos
Inborn Errors of Metabolism
Diseases of the Liver and Gallbladder
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
Protein Import into the Peroxisomes
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Esophageal Varices-II: Clinical Features and Management
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
Liver Physiology
Metabolic Regulation:
The liver is the central organ involved in regulating blood composition. It stabilizes blood glucose levels, maintaining them within the range of 70–110 mg/dL. When these levels drop, the liver breaks down glycogen reserves and releases glucose into the bloodstream. It can...
Liver Regeneration
Cells of Liver
The liver comprises four major types of cells— hepatocytes, stellate, Kupffer, and sinusoidal endothelial cells. The hepatocytes are...

