title: Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment.
abstract: 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.
authors.affiliation: Trinity College, Dublin, Ireland.
authors.forename: L
authors.initials: L
authors.lastname: Morrissey
authors.forename: C A
authors.initials: CA
authors.lastname: Tiernan
authors.forename: D
authors.initials: D
authors.lastname: Lambert
authors.forename: E
authors.initials: E
authors.lastname: O'Reilly
authors.forename: E P
authors.initials: EP
authors.lastname: Treacy
mesh_terms: D000328:Adult; D020022:Genetic Predisposition to Disease; D006306:Health Surveys; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008659:Metabolic Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D015995:Prevalence; D011379:Prognosis; D035583:Rare Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D012042:Registries; D011795:Surveys and Questionnaires