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

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.

Inhalt

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