Physician's Guide to the Treatment and Follow-up of Metabolic Diseases

This clinical reference provides concise information on the treatment and management of inherited metabolic diseases. World experts cover all commonalities of therapy giving practical advice and guidance. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables and figures allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.

Keywords:

• Disorder
• Genetics
• Inborn
• Inherited
• Metabolic disease

Table of contents

Initial approaches: Emergency treatment of metabolic diseases.- The role of communication in the treatment of inborn metabolic diseases. Disorders: Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism.- Disorders of Neurotransmitter Metabolism.- Disorders of GABA, Glycine, Serine and Proline.- Disorders of Tyrosine Degradation.- Disorders of Histidine Metabolism.- Disorders of Leucine Metabolism.- Disorders of Valine-Isoleucine Metabolism.- Various Organic Acidurias.- Disorders of the g-Glutamyl Cycle.- Disorders of Sulfur Amino Acids.- Inherited Hyperammonemias.- Disorders of Ornithine, Lysine and Tryptophan.- Defective Transcellular Transport of Amino Acids.- Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism.- Disorders of Carbohydrate and Glycogen Metabolism.- Disorders of Glucose Transport.- Disorders of Glycerol Metabolism.- The Mucopolysaccharidoses.- Oligosaccharidoses and Related Disorders.- Congenital Disorders of Glycosylation.- Cystinosis.- Other Storage Disorders.- Purine and Pyrimidine Disorders.- Disorders of Creatine Metabolism.- Peroxisomal Disorders.- Hyperoxaluria.- Mitochondrial Energy Metabolism.- Genetic Dyslipoproteinemias.- Disorders of Steroid Synthesis and Metabolism.- Inborn Errors of Cholesterol Biosynthesis.- The Porphyrias.- Disorders of Bile Acid Synthesis.- Disorders of Copper, Zinc and Iron Metabolism.- Leukotrienes.- Hyperinsulinism in Infancy.- Other Metabolic Disorders. Disorders Index. Index.