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29 - Tyrosinemia

from SECTION IV - METABOLIC LIVER DISEASE

Published online by Cambridge University Press:  18 December 2009

By
Grant A. Mitchell M.D. ,
Pierre A. Russo M.D. ,
Josée Dubois M.D., F.R.C.P.  and
Fernando Alvarez M.D.
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Grant A. Mitchell M.D.
Affiliation:
Professor, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada
Pierre A. Russo M.D.
Affiliation:
Professor of Pathology and Pediatrics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
Josée Dubois M.D., F.R.C.P.
Affiliation:
Professor of Radiology, Department of Radiology, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada
Fernando Alvarez M.D.
Affiliation:
Professor of Pediatrics, Department of Pediatric Gastroenterology, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada
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

Hepatorenal tyrosinemia is a fascinating inborn error of metabolism that can affect numerous organs, particularly the liver, kidneys, and peripheral nerves. The first report of a patient with elevated blood tyrosine was by Medes in 1932 [1]. Patients with a more typical clinical and biochemical picture of tyrosinemia were then described in the late 1950s [2–5]. Since then, more than 500 patients have been reported in the literature [6–8] or enrolled in the International NTBC [2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cyclohexanedione] Trial. Previously, almost all patients died in infancy and early childhood, and only isolated case reports described affected adults. In the 50 years since the description of tyrosinemia [3], the course of the disease has been improved successively by the introduction of diet therapy, neonatal screening, and hepatic transplantation. The advent of liver and kidney transplantation as a definitive treatment [7–11] revolutionized the outcome. Recently, the availability of NTBC, a chemical now designated as nitisinone and commercialized as Orfadin (Swedish Orphan International AB), has provided hope for a nonsurgical solution for some patients. On a fundamental level, tyrosinemia raises questions in hepatology, biochemical and population genetics, cell biology, oncology, and public health.

PATHOPHYSIOLOGY

Tyrosinemia is caused by a deficiency of fumarylacetoacetate hydrolase (FAH; enzyme [EC] 3.7.1.2), the last enzyme of tyrosine degradation (Figure 29.1A). The site of the primary metabolic block in tyrosinemia was elegantly deduced by Lindblad et al. in 1977 [12] and subsequently confirmed enzymatically by several investigators [13–15].

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Liver Disease in Children , pp. 694 - 713
Publisher: Cambridge University Press
Print publication year: 2007

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  • Tyrosinemia
    • By Grant A. Mitchell, M.D., Professor, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada, Pierre A. Russo, M.D., Professor of Pathology and Pediatrics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, Josée Dubois, M.D., F.R.C.P., Professor of Radiology, Department of Radiology, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada, Fernando Alvarez, M.D., Professor of Pediatrics, Department of Pediatric Gastroenterology, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada
  • Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
  • Book: Liver Disease in Children
  • Online publication: 18 December 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511547409.031
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  • Tyrosinemia
    • By Grant A. Mitchell, M.D., Professor, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada, Pierre A. Russo, M.D., Professor of Pathology and Pediatrics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, Josée Dubois, M.D., F.R.C.P., Professor of Radiology, Department of Radiology, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada, Fernando Alvarez, M.D., Professor of Pediatrics, Department of Pediatric Gastroenterology, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada
  • Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
  • Book: Liver Disease in Children
  • Online publication: 18 December 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511547409.031
Available formats
×

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.

  • Tyrosinemia
    • By Grant A. Mitchell, M.D., Professor, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada, Pierre A. Russo, M.D., Professor of Pathology and Pediatrics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, Josée Dubois, M.D., F.R.C.P., Professor of Radiology, Department of Radiology, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada, Fernando Alvarez, M.D., Professor of Pediatrics, Department of Pediatric Gastroenterology, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada
  • Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
  • Book: Liver Disease in Children
  • Online publication: 18 December 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511547409.031
Available formats
×