Metabolic Liver Disease: When to Suspect and How to Diagnose?

Abstract

Metabolic liver diseases are still considered by many as a 'rare' diagnosis, though scenario has definitely changed in recent times. With recent advances and wider availablility of newer techniques, many of these are now amenable to diagnosis and optimum management. Though the logistics involved are still out of reach of a significant proportion of our population, a stepwise and methodological approach with simple diagnostic tests can help point towards a probable diagnosis (with resultant directed investigations), helping to avoid unnecessary and costly workup. This review focuses on diagnostic protocol-based approach to common metabolic liver diseases encountered frequently in pediatric hepatology.

Keywords: Gene therapy; Genetic counseling; Hepatocyte transplantation; Inborn errors of metabolism; Liver transplantation; Metabolic liver diseases; Protocol based approach; Red flag signs.