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 24 - Laboratory Diagnosis of Inborn Errors of Liver Metabolism
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
Liver disease due to inborn errors of metabolism (IEM) is relatively common, and this group of disorders is recognized with increasing frequency as a cause of disease at every life interval from the fetus to the geriatric patient. The specific patterns of disease, however, overlap with many other causes of liver disease. Specific testing for metabolites, or more recently through genomic sequencing, is required to appropriately diagnose these metabolic conditions, which increasingly have specific and effective treatments. The collective incidence of IEMs is often underestimated, and diagnostic errors often occur, leading to devastating consequences for patients and their families, including several historical examples of criminal charges against parents for child abuse and neglect [1].
- Type
- Chapter
- Information
- Liver Disease in Children , pp. 401 - 416Publisher: Cambridge University PressPrint publication year: 2021
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