inborn errors of metabolism information registry

Inherited metabolic disorders encompass a wide range of symptoms that may be acute or chronic and progressive. These diseases, which result from defects in metabolic pathways, are related to numerous cellular reactions, and their symptoms are also very diverse. The incidence of Mendelian diseases varies among ethnic groups, and the frequency of causative gene variants also varies among human populations. Although the prevalence of recessive diseases is usually very low, the carrier frequency is relatively high. Some of these diseases are so rare that a physician may never encounter them during his or her medical practice, and some of these diseases have a higher prevalence. For example, the Norwegian Screening Center has estimated the incidence of CBS (cystathionine beta synthase deficiency) in Norway to be 1 in 6400 births. And the incidence of HPA (hyperphenylalaninemia) in Japan is estimated to be approximately 1 in 70,000. Some studies have also reported that after the establishment of screening programs, the incidence of IEMs increased by 46%, mainly due to the detection of attenuated phenotypes. In general, given that the overall prevalence of congenital metabolic disorders is about 1 in 1500, every physician will encounter at least one of these patients. Some studies have reported a prevalence of less than 1 in 2000 for congenital metabolic disorders. Today, these diseases are of particular importance in the routine care of hospitalized children, and newborn screening has also increased awareness of these patients. Currently, in many developed countries of the world, more than 29 diseases, and in some cases up to 40 inherited metabolic diseases, are included in the national screening program, and the use of advanced technologies has made it possible to diagnose these diseases with considerable accuracy. Currently, due to the dispersion of patient information in Iran, the prevalence of these diseases, especially the rarer types, is not very clear, and this has challenged short-term and long-term policies in this field. One of the best ways to obtain comprehensive information about metabolic diseases is to register these diseases. Registering information on patients with inherited metabolic disorders is very important in order to obtain statistics and indicators of these patients in order to design strategies for the prevention and control of these diseases and their optimal diagnosis and treatment. By analyzing these statistics, health administrators and relevant authorities can obtain an estimate of the number of patients and the prevalence of various metabolic diseases and accordingly take action to implement screening programs, treatment priorities and patient education, medication provision, and special nutritional needs of these patients. In addition, with the help of registering these diseases, the long-term outcome of the disease and the impact of various treatment protocols on these outcomes can be examined. Currently, registration of metabolic diseases is being carried out individually or in groups in various medical and research centers; however, in Iran, registration and screening of these diseases has recently been considered, and for this reason, information about these diseases is very scattered. Similar registration programs include the registration program for congenital malformations. The Tabriz Registry of Congenital Anomalies (TRoCA) was established in 2003 following a research project on the epidemiology of congenital anomalies in 2000. TRoCA is a hospital-based registry located in northwestern Iran and covers all newborns and children born in three university hospitals in the city of Tabriz. The registry was accepted as a member of The International Clearing House for Birth Defects Surveillance and Research (ICBDSR) at its annual meeting in Sweden in 2006. TRoCA has been accepted as a member of the European Network of Registries for Epidemiologic Surveillance of Congenital Anomalies (EUROCAT) since 2012. The registry is located at Al-Zahra University Hospital and the main objectives of this program are to establish a monitoring system of congenital anomalies in northwestern Iran and to apply preventive and control tools in the region. This registry also includes the following objectives: 1) Using genetic knowledge for prevention (for example, the nature of genetic diseases, their prevention, and available approaches to managing a genetic malformation and disorder) 2) Promoting genetic counseling and testing in the community 3) Assessing the rates and patterns of different types of congenital malformations and searching for local causes and contributing factors in newborns. Monitoring and reviewing this program can provide a pilot model and insight into the epidemiology and potential for prevention and control of congenital malformations.