Part 1: Organic Acidemias. Part 2: Disorders of Amino Acid Metabolism. Part 3: Hyperammonemia and Disorders of the Urea Cycle. Part 4: Disorders of Fatty Acid Oxidation. Part 5: The Lactic Acidemias and Mitochondrial Disease. Part 6: Disorders of Carbohydrate Metabolism. Part 7: Peroxisomal Disorders. Part 8: Disorders Of Purine And Pyridine Metabolism. Part 9: Mucopolysaccharidoses. Part 10: Mucolipidosis. Part 11: Disorders Of Cholesterol And Neutral Lipid Metabolism. Part 12: Lipid Storage Disorders. Part 13: Miscellaneous.
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to.
The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.
Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
