We already know more than 400 congenital metabolic diseases, and there are frequent findings that other, already recognized conditions are caused by a disrupted metabolism. This research theme concentrates on both fundamental and clinical research into metabolic diseases and developmental disorders. The focus is on unravelling the underlying mechanisms that cause the conditions, the development of new therapies (e.g. enzyme suppletion, substrate deprivation, gene therapy) and the development of new diagnostic procedures, with a particular emphasis on early diagnosis. The principal participants are the Laboratory for Genetic Metabolic Diseases, the AMC Liver Center (renamed Tytgat Institute for Liver and Intestinal Research), and the departments of Endocrinology and Metabolism, Paediatrics, Clinical Genetics, and Medical Biochemistry.