Inborn errors of metabolism (IEM) is a group of around 500 diseases, characterized by function alteration in proteins or enzymes involving the intermediary metabolism of carbohydrates, amino acids, and lipids, among others. Since their discovery at the beginning of the last century, IEM have made important contributions to different fields of biochemistry and medicine. In this paper, a review of the recent patents for the diagnosis and treatment of IEM will be presented. During the last years significant achievements have been done for their diagnosis, including the use of tandem mass spectrometry for the identification of an important number of disorders and the use of genetic and immunological techniques, which have allowed the development of reliable diagnosis tests. Also, important progresses has been done in therapeutic strategies, most of them based on the use of recombinant DNA technology, such as enzyme and gene therapies, and the use of small molecules for chaperone and substrate reduction therapies. Improvements in classical treatments, like nutritional management, have also contributed in the generation of new therapeutic strategies for these patients.
Inborn errors of metabolism, tandem mass spectrometry, enzyme replacement therapy, gene therapy, nutritional management
Institute for the Study of Inborn Errors of Metabolism, Pontificia Universidad Javeriana, Cra 7 No. 43-82 Building 53, Room 305A. Bogota D.C., Colombia.