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Chapter 31 - Tyrosinemia in Children

from Section IV - Metabolic Liver Disease

Published online by Cambridge University Press:  19 January 2021

By
Grant Mitchell ,
Pierre A. Russo ,
Josée Dubois ,
Ugur Halac  and
Fernando Alvarez
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Edited in association with
Jorge A. Bezerra ,
Cara L. Mack  and
Benjamin L. Shneider
Frederick J. Suchy
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Ronald J. Sokol
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
William F. Balistreri
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Jorge A. Bezerra
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Cara L. Mack
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Benjamin L. Shneider
Affiliation:
Texas Children’s Hospital, Houston
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Summary

Hepatorenal tyrosinemia1 is a severe inborn error of metabolism that can affect numerous organs, particularly the liver, kidneys, and peripheral nerves. In the first accounts of patients with features typical of tyrosinemia in the 1950s, almost all died of liver disease in infancy and childhood [1]. However, tyrosinemia is highly variable and rare case reports described surviving affected adults. Since the identification of tyrosinemia, its clinical course has been improved successively by the introduction of diet therapy, neonatal screening, liver transplantation and treatment with nitisinone (NTBC, 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cyclohexanedione) [2]. Tyrosinemia raises questions in liver biology, biochemical and population genetics, cell biology, oncology, and public health.

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Chapter
Information
Liver Disease in Children , pp. 548 - 569
Publisher: Cambridge University Press
Print publication year: 2021

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References

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