naa a22 4500 510740979 CHVBK 20180411083028.0 cr unu---uuuuu 180411e20131201xx s 000 0 eng 10.1007/s11845-013-0927-9 doi (NATIONALLICENCE)springer-10.1007/s11845-013-0927-9 Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment [Elektronische Daten] [L. Morrissey, C. Tiernan, D. Lambert, E. O'Reilly, E. Treacy] Background: Hereditary metabolic diseases (HMDs) are almost all rare diseases, many of which, if ascertained are treatable and preventable causes of intellectual and general disability. The improved detection and treatment of HMDs in paediatric practice has resulted in increased survival into adult life. The identification of adult patients with HMDs who may benefit from new emerging treatments is challenging. As for many rare diseases, there are difficulties tracing patients for many of these conditions in current Irish coding systems and lack of established patient Registries. Methods: In this study, we describe the efforts made to trace Irish adult patients with potentially treatable HMDs using (1) a mailed questionnaire sent to all currently registered adult Medical Specialists practising in Ireland requesting details of all cases seen over the 4-year period 2007-2010, (2) the analysis of HIPE in-patient data during this time and (3) analysis of the database held at NCIMD. Conclusions: The current systems in place for identification and coding of potentially treatable HMDs are very deficient. This emphasizes the need to prioritize the development of a National HMD Registry. Royal Academy of Medicine in Ireland, 2013 Hereditary metabolic diseases-adults nationallicence Irish epidemiology nationallicence Patient registries nationallicence Morrissey L. Trinity College, Dublin, Ireland aut Tiernan C. Trinity College, Dublin, Ireland aut Lambert D. National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland aut O'Reilly E. National Centre for Inherited Metabolic Disorders (NCIMD), Children's University Hospital, Temple St, Dublin, Ireland aut Treacy E. Trinity College, Dublin, Ireland aut Irish Journal of Medical Science Springer London 182/4(2013-12-01), 565-571 0021-1265 182:4<565 2013 182 11845 https://doi.org/10.1007/s11845-013-0927-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s11845-013-0927-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Morrissey L. Trinity College, Dublin, Ireland aut NATIONALLICENCE 700 1- Tiernan C. Trinity College, Dublin, Ireland aut NATIONALLICENCE 700 1- Lambert D. National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland aut NATIONALLICENCE 700 1- O'Reilly E. National Centre for Inherited Metabolic Disorders (NCIMD), Children's University Hospital, Temple St, Dublin, Ireland aut NATIONALLICENCE 700 1- Treacy E. Trinity College, Dublin, Ireland aut NATIONALLICENCE 773 0- Irish Journal of Medical Science Springer London 182/4(2013-12-01), 565-571 0021-1265 182:4<565 2013 182 11845 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer