TY - CHAP M1 - Book, Section TI - Chapter 421. Metabolic and Genetic Disorders of the Liver A1 - Suchy, Frederick J. A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. PY - 2011 T2 - Rudolph's Pediatrics, 22e AB - The liver plays a central role in the biosynthesis and degradation of carbohydrates, lipids, and amino acids (see Chapter 418). Thus, the liver is involved primarily or secondarily in many inborn errors of metabolism. In inborn errors of metabolism such as hereditary tyrosinemia, the absence of a critical enzyme may cause an accumulation of toxic metabolites. In other disorders, progressive liver injury may occur because of failure to produce essential compounds. An example of this process is an inborn error of bile acid metabolism, which leads to progressive cholestasis because of a lack of bile acid synthesis. Severe liver injury may also result from a third mechanism, sequestration of an abnormally synthesized product within the liver, as observed in α1-antitrypsin deficiency. In this section, the focus is on those disorders that lead to acute or chronic damage to the liver. Many of these metabolic disorders are discussed further in Section 11. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=7038656 ER -