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 27 - Inborn Errors of Carbohydrate Metabolism
from Section IV - Metabolic Liver Disease
Published online by Cambridge University Press: 19 January 2021
- 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
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.
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- Liver Disease in Children , pp. 455 - 483Publisher: Cambridge University PressPrint publication year: 2021
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