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31 - Disorders of Bile Acid Synthesis and Metabolism: A Metabolic Basis for Liver Disease

from SECTION IV - METABOLIC LIVER DISEASE

Published online by Cambridge University Press:  18 December 2009

By
Kenneth D. R. Setchell Ph.D.  and
Nancy C. O'Connell M.S., C.C.R.C., C.C.R.A.
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Kenneth D. R. Setchell Ph.D.
Affiliation:
Professor, Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio
Nancy C. O'Connell M.S., C.C.R.C., C.C.R.A.
Affiliation:
Research Scientist, Clinical Mass Spectrometry Laboratory, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
Frederick J. Suchy
Affiliation:
Mount Sinai School of Medicine, New York
Ronald J. Sokol
Affiliation:
University of Colorado, Denver
William F. Balistreri
Affiliation:
University of Cincinnati
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Summary

With the increased recognition of the importance of bile acid synthesis and metabolism in both normal physiology and pathophysiology, there has been a renaissance in this field in recent years. For such small and relatively simple molecules, the bile acids have amazingly diverse properties and functions. To the lipidologist, bile acid biosynthesis represents one of the major pathways for regulating cholesterol homeostasis; on the other hand, the hepatologist sees these molecules as essential for providing the major driving force for the promotion and secretion of bile and therefore as key elements in the development and maintenance of an efficient enterohepatic circulation. The gastroenterologist recognizes that bile acids play an important role in the solubilization and absorption of fats and fat-soluble vitamins in the small bowel, whereas in the large bowel, pathologists have viewed these molecules as potentially harmful in that they are cathartic, membrane damaging, and promoters of colonic disease. With regard to bile acid biosynthesis, several comprehensive reviews of the subject have been published [1–4]; therefore, this chapter provides only an overview of the pathways of bile acid synthesis and metabolism and describes specific inborn errors in bile acid synthesis that have been identified.

PATHWAYS FOR BILE ACID SYNTHESIS FROM CHOLESTEROL

Although not generally thought of as steroids, the bile acids belong to this chemical class, possessing the basic cyclopentanoperhydrophenanthrene (ABCD ring) nucleus [5, 6]. They differ from steroid hormones and neutral sterols by having a five-carbon atom side chain with a terminal carboxylic acid (Figure 31.1).

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Liver Disease in Children , pp. 736 - 766
Publisher: Cambridge University Press
Print publication year: 2007

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Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

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