Book contents
- Liver Disease in Children
- Liver Disease in Children
- Copyright page
- Contents
- Contributors
- Preface
- Section I Pathophysiology of Pediatric Liver Disease
- Section II Cholestatic Liver Disease
- Section III Hepatitis and Immune Disorders
- Section IV Metabolic Liver Disease
- Chapter 24 Laboratory Diagnosis of Inborn Errors of Liver Metabolism
- Chapter 25 α1-Antitrypsin Deficiency
- Chapter 26 Cystic Fibrosis Liver Disease in Children
- Chapter 27 Inborn Errors of Carbohydrate Metabolism
- Chapter 28 Copper Metabolism and Copper Storage Disorders in Children
- Chapter 29 Iron Storage Disorders in Children
- Chapter 30 Heme Biosynthesis and the Porphyrias in Children
- Chapter 31 Tyrosinemia in Children
- Chapter 32 Lysosomal Storage Disorders in Children
- Chapter 33 Disorders of Bile Acid Synthesis and Metabolism in Children
- Chapter 34 Inborn Errors of Fatty Acid Oxidation
- Chapter 35 Mitochondrial Hepatopathies
- Chapter 36 Non-Alcoholic Fatty Liver Disease in Children
- Chapter 37 Peroxisomal Disorders in Children
- Chapter 38 Urea Cycle Disorders in Children
- Section V Other Considerations and Issues in Pediatric Hepatology
- Index
- References
Chapter 38 - Urea Cycle Disorders in Children
from Section IV - Metabolic Liver Disease
Published online by Cambridge University Press: 19 January 2021
Book contents
- Liver Disease in Children
- Liver Disease in Children
- Copyright page
- Contents
- Contributors
- Preface
- Section I Pathophysiology of Pediatric Liver Disease
- Section II Cholestatic Liver Disease
- Section III Hepatitis and Immune Disorders
- Section IV Metabolic Liver Disease
- Chapter 24 Laboratory Diagnosis of Inborn Errors of Liver Metabolism
- Chapter 25 α1-Antitrypsin Deficiency
- Chapter 26 Cystic Fibrosis Liver Disease in Children
- Chapter 27 Inborn Errors of Carbohydrate Metabolism
- Chapter 28 Copper Metabolism and Copper Storage Disorders in Children
- Chapter 29 Iron Storage Disorders in Children
- Chapter 30 Heme Biosynthesis and the Porphyrias in Children
- Chapter 31 Tyrosinemia in Children
- Chapter 32 Lysosomal Storage Disorders in Children
- Chapter 33 Disorders of Bile Acid Synthesis and Metabolism in Children
- Chapter 34 Inborn Errors of Fatty Acid Oxidation
- Chapter 35 Mitochondrial Hepatopathies
- Chapter 36 Non-Alcoholic Fatty Liver Disease in Children
- Chapter 37 Peroxisomal Disorders in Children
- Chapter 38 Urea Cycle Disorders in Children
- Section V Other Considerations and Issues in Pediatric Hepatology
- Index
- References
Summary
The urea cycle, first described in 1932 by Krebs and Henseleit, is the only metabolic pathway responsible for converting nitrogenous waste, produced by the breakdown of protein and other nitrogen-containing molecules into urea, which can be easily excreted from the body (Figure 38.1). Urea cycle disorders (UCDs) result from defects in this pathway and lead to an inability to rid excess nitrogen from the body, resulting in accumulation of nitrogen species, namely ammonia and glutamine, which are toxic in high concentrations. The incidence of these disorders is estimated to be at least one in 35,000 births [1], but partial defects, which may not manifest until later in life, may make this number higher.
- Type
- Chapter
- Information
- Liver Disease in Children , pp. 698 - 709Publisher: Cambridge University PressPrint publication year: 2021
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