Common Liver Diseases and Transplantation: An Algorithmic Approach to Work Up and Management

Robert S Brown Jr, MD MPH

Chapter 10: Inherited Metabolic Liver Diseases (continued)

Patrick Basu, MD, MRCP, AGAF; Niraj James Shah, MD

Liver metabolism is regulated by a diverse multitude of enzymes that may in turn be affected by environmental and genetic influences and lead to dysregulation and disease. Several inheritable metabolic diseases impair liver function (eg, glycogen storage diseases may elicit hepatomegaly as a manifestation of an underlying genetic defect), but liver pathology as a primary pathologic consequence of heritable diseases is rare. Three disorders in which one of the main pathophysiologic consequences revolves around liver injury are alpha-1-antitrypsin (A1AT) deficiency, Wilson’s disease, and…