Inborn Metabolic Diseases

The diagnosis and treatment of metabolic diseases represent the main issues of this clinical book. Each disease-related chapter starts with a figure which presents an outline of the metabolic pathway, the locations of its inborn defects, and a short explanation of its major functions. The position of the figure on the left-hand page facilitates its consultation when reading further. The text begins with a short clinical abstract and discusses clinical presentation, metabolic derangement, diagnosis, treatment and prognosis, genetics and references for each disease. Five chapters on the general principles of diagnosis and treatment precede the chapters on specific disorders. The first and most important one is an introduction to the clinical approach to inborn metabolic disease. The others deal with diagnostic procedures, emergency treatments, psychosocial care, and the present status of treatments, with comprehensive lists and new trends of treatment. TOC:Diagnosis and Treatment: General Principles.- Carbohydrate Metabolism.- Mitochondrial Energy Metabolism.- Amino Acid Metabolism and Transport.- Vitamin-Responsive Disorders.- Neurotransmitter and Small Peptide Disorders.- Lipid and Bile Acid Metabolism.- Nuclei Acid and Heme Metabolism.- Metal Transport.- Organelle-Related Disorders: Lyosomes, Peroxisomes, and Golgi and Pre-Golgi Systems