出版社：Consejo Superior de Investigaciones Científicas
摘要：Most rare diseases (RD) are genetically based, occur with very different symptoms and may cause a different degree of disability, especially inborn errors of metabolism (IEM). The clinical transition process of a patient with a RD reaching adulthood aims to ensure uninterrupted, coordinated and psychologically-appropriate health care through multidisciplinary expert units (EU). The specialist in Internal Medicine has a central role, along with Nutrition and Dietetics, a specialized ECM laboratory, and other specialists (Neurology, Clinical Genetics, Pharmacy, Ophthalmology, Obstetrics, Psychiatry, Nursing, Social Work, with the support of pediatricians experienced in ECM). EU should organize the overall care, develop clinical guidelines for diagnosis, follow-up and treatment, adapt Pharmacy services, create patient registers, establish relationships with patients’ associations, develop a scientific training program, establish international partnerships, facilitate collaboration with the Pharmaceutical Industry and have its own research activity.
关键词：enfermedades raras;enfermedades metabólicas hereditarias;errores congénitos del metabolismo;transición niño-adulto en errores congénitos del metabolismo
其他关键词：rare diseases;inherited metabolic diseases;inborn errors of metabolism;child-adult transition in inborn errors of metabolism
