Metabolic Diseases of the Liver

Metabolic liver diseases may present with a variety of clinical phenotypes, including the appearance of acute hepatitis, bacterial sepsis, metabolic coma, mimicking ingestion of a toxin or drug overdose, or as end-stage liver disease with portal hypertension. This chapter focuses on six major areas of metabolic disease: Wilson disease, α-1 antitrypsin deficiency, Reye syndrome, porphyria, a group of important metabolic liver diseases presenting in early childhood, and mitochondrial hepatopathies. Hepatic involvement may be the presenting symptom of a variety of metabolic disorders which occur primarily or exclusively in infancy and childhood. The chapter also describes several of the most common genetic metabolic liver diseases of infancy and early childhood. Excessive accumulation of glycogen or abnormal synthesis of glycogen in the liver or muscle tissue is the underlying basis for a group of diseases called the glycogen storage diseases (GSD).