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Metabolic liver disease has traditionally referred to diseases that result from inborn errors of metabolism. These disorders are due to a single enzyme defect that affects the synthesis or catabolism of a carbohydrate (CHO), protein, or lipid. These defects in metabolism can result in either liver failure or cirrhosis, with or without injury to other tissues, or relative sparing of the liver with primary toxicity to other organ systems (Table 28–1). Metabolic disorders that arise in the liver with primary toxicity to other organ systems are not addressed in this chapter. This chapter approaches metabolic-induced liver disease not only from the traditional approach, those resulting from a single enzyme defect, but also as a genetic susceptibility induced by a trigger, such as a drug or a metabolic derangement associated with visceral obesity (nonalcoholic fatty liver disease (NAFLD)).

Table 28–1. Inborn Errors of Metabolism Causing Liver Disease

Taken individually, single enzyme defects are rare, although as a group they constitute at least 10% of pediatric liver transplantations. Wilson’s disease, alpha-1-antitrypsin deficiency (A1AT), and cystic fibrosis are the most common inherited metabolic conditions that affect the liver and are discussed individually in this textbook. Fortunately, in children most drug-induced liver disease (DILI) remains uncommon, although certain pediatric patient populations are at increased risk. NAFLD is becoming a worldwide problem of childhood and is the most common cause of liver disease in this age group. The increase in prevalence parallels the epidemic of obesity.1 This chapter will address the following three categories of metabolic liver disease in separate sections: inherited metabolic-induced liver disease, DILI, and obesity-induced NAFLD.


Enzymatic disorders that cause liver disease include disorders of CHO, protein, lipid/microsomal, and bile acid synthesis. Because the pathogenesis of these disorders is directly related to the metabolic pathway where the defect occurs, each class of disorders is addressed separately.

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