Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America - 1st Edition - ISBN: 9780323584111, 9780323584128

Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America, Volume 65-2

1st Edition

Authors: Vernon Sutton Ayman El-Hattab
eBook ISBN: 9780323584128
Hardcover ISBN: 9780323584111
Imprint: Elsevier
Published Date: 8th March 2018
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Table of Contents

Inborn Errors of Metabolism – Table of Contents

Erratum

Foreword: New Understanding of Mechanisms and New Hope for Treatments

Preface: Approach to Inborn Errors of Metabolism in Pediatrics

Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management

Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism

Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders

Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine

Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders

Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism

Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System

Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine

Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders

Newborn Screening: History, Current Status, and Future Directions


Description

The guest editors have compiled expert authors to provide current updates on the clinical management of inborn errors of metabolism. Authors have contributed clinical review articles on the following topics: Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management; Inborn errors of metabolism with acidosis: organic acidemias and defects of pyruvate and ketone body metabolism; Inborn errors of metabolism with hyperammonemia: urea cycle defects and related disorders; Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and gluconeogenesis defects; Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and carnitine transport; Inborn errors of metabolism with seizures: defects of glycine and serine metabolism and co-factor related disorders; Inborn errors of metabolism with hepatopathy: metabolism defects of galactose, fructose, and tyrosine; Inborn errors of metabolism with cognitive impairment: metabolism defects of phenylalanine, homocysteine and methionine, purine and pyrimidine, and creatine; Inborn errors of metabolism with movement disorders: defects in metal transport and neurotransmitter metabolism; Inborn errors of metabolism involving complex molecules: lysosomal and peroxisomal storage diseases; Inborn errors of metabolism with complex phenotypes: mitochondrial disorders and congenital disorders of glycosylation; and Newborn screening: history, current status, and future directions.


Details

Language:
English
Copyright:
© Elsevier 2018
Published:
Imprint:
Elsevier
eBook ISBN:
9780323584128
Hardcover ISBN:
9780323584111

About the Authors

Vernon Sutton Author

Affiliations and Expertise

Baylor College of Medicine, Houston, TX

Ayman El-Hattab Author

Affiliations and Expertise

Tawam Hospital, Al-Ain, United Arab Emirates