Author Description

For prevention and treatment of metabolic disorders, prompt and precise diagnosis are often essential. However, many of these conditions are rare, and clinicians may not have seen individuals affected with many preventable or treatable metabolic diseases. Our experience leads us to believe that there is a need for a book summarizing the salient facts on the clinical, genetical, pathological, and biochemical features of inborn errors, reviewing therapy where this is possible, or methods of prenatal diagnosis when it is not. This book is aimed, therefore, at a wide readership, but especially practicing and student pediatricians, neurologists, geneticists, obstetricians, pathologists, medical biochemists, dieticians, and others involved in diagnosis, prevention and treatment of patients with metabolic diseases.