Inborn Metabolic Diseases: A Clinical Approach

The disease or disorder that disrupts normal metabolism is known as a metabolic disease. It affects the procedure of conversion of food into energy on a cellular level. It also influences the ability of the cell to perform critical biochemical reactions that involve the processing of proteins, carbohydrates and starch. Metabolic diseases are typically hereditary. Some of the symptoms that can occur in metabolic disorders are lethargy, weight loss, jaundice and seizures. Tandem mass - spectrometry is a new technology that helps in the detection of multiple abnormal metabolites. However, gene therapy is successful in the treatment of some of these metabolic diseases. Screening of metabolic diseases in newborns can be done via blood tests, skin test and hearing tests. If the metabolic disease is detected at an early stage, it can be treated by nutrition management. This book provides comprehensive insights into the field of metabolic disease. It consists of contributions made by international experts. Researchers and students in this field will be assisted by this book.