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Chapter 27 - Inborn Errors of Carbohydrate Metabolism

from Section IV - Metabolic Liver Disease

Published online by Cambridge University Press:  19 January 2021

By
Peter Witters ,
Eva Morava-Kozicz  and
Fayez K. Ghishan
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

Inborn errors of carbohydrate metabolism that lead to hepatic dysfunction are represented mainly by galactosemia, hereditary fructose intolerance (HFI), and glycogen storage disease (GSD) types I, III, IV, VI and IX. Although not related to energy disorders, congenital disorders of glycosylation (CDG) can likewise be placed in this group. The clinical presentation of such patients includes varying degree of hypoglycemia, acidosis, growth failure, and hepatic dysfunction. Appropriate steps in obtaining clinical history, physical examination, and laboratory evaluation support the definitive diagnosis. Advances in biochemistry, molecular biology and genetics continuously increase our treatment options and the development of newer treatment strategies. This chapter highlights our current knowledge.

Type
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Information
Liver Disease in Children , pp. 455 - 483
Publisher: Cambridge University Press
Print publication year: 2021

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