22. Approach to Metabolic and Storage Diseases

  1. E. Jenny Heathcote MB, BS, MD, FRCP, FRCP(C)4,5,6,7
  1. Hemant A. Shah MD, FRCP(C)1,5 and
  2. Eve A. Roberts MD, MA, FRCPC2,3

Published Online: 4 SEP 2012

DOI: 10.1002/9781118314968.ch22

Hepatology: Diagnosis and Clinical Management

Hepatology: Diagnosis and Clinical Management

How to Cite

Shah, H. A. and Roberts, E. A. (2012) Approach to Metabolic and Storage Diseases, in Hepatology: Diagnosis and Clinical Management (ed E. J. Heathcote), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781118314968.ch22

Editor Information

  1. 4

    Francis Family Chair in Hepatology Research, Toronto, Ontario, Canada

  2. 5

    University of Toronto, Toronto, Ontario, Canada

  3. 6

    Patient Based Clinical Research Division, Toronto Western Research Institute, Toronto, Ontario, Canada

  4. 7

    University Health Network/Toronto Western Hospital, Toronto, Ontario, Canada

Author Information

  1. 1

    Liver Centre, Division of Gastroenterology, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada

  2. 2

    Departments of Paediatrics, Medicine, and Pharmacology, University of Toronto, Toronto, Ontario, Canada

  3. 3

    Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada

  4. 5

    University of Toronto, Toronto, Ontario, Canada

Publication History

  1. Published Online: 4 SEP 2012
  2. Published Print: 12 OCT 2012

ISBN Information

Print ISBN: 9780470656174

Online ISBN: 9781118314968

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Keywords:

  • metabolic;
  • genetic;
  • hemochromatosis;
  • α-1-antitrypsin;
  • infantile conjugated hyperbilirubinemia;
  • neonatal liver failure

Summary

Because the liver has a central role in synthesis and metabolism of proteins, carbohydrates, and fats, it is involved in nearly all metabolic diseases. Such metabolic diseases can present in many different ways. A systematic approach can facilitate correct diagnosis. Treatment should be targeted to the specific disease process. Early diagnosis and treatment typically permit the best clinical outcome. Liver transplantation is an important intervention to consider for advanced disease since it can sometimes treat the underlying metabolic derangement as well as liver failure.