Irish Journal of Medical Science

, Volume 182, Issue 4, pp 565–571 | Cite as

Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment

  • L. Morrissey
  • C. A. Tiernan
  • D. Lambert
  • E. O’Reilly
  • E. P. Treacy
Original Article



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.


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.


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.


Hereditary metabolic diseases-adults Irish epidemiology Patient registries 



The authors acknowledge ESRI (The Economic and Social Research Institute) and Aisling Mulligan for analysis of the HIPE data. The authors also thank Phil Mulligan for her assistance with the study and the collaboration of all the Metabolic Physicians at the NCIMD and Prof. Andrew Green at the National Centre for Medical Genetics. Dr. Helen McAvoy, Institute of Public Health is also thanked for helpful discussion.

Conflict of interest



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Copyright information

© Royal Academy of Medicine in Ireland 2013

Authors and Affiliations

  • L. Morrissey
    • 1
  • C. A. Tiernan
    • 1
  • D. Lambert
    • 2
  • E. O’Reilly
    • 3
  • E. P. Treacy
    • 1
    • 3
  1. 1.Trinity CollegeDublinIreland
  2. 2.National Centre for Medical GeneticsOur Lady’s Hospital for Sick ChildrenCrumlin, DublinIreland
  3. 3.National Centre for Inherited Metabolic Disorders (NCIMD)Children’s University HospitalDublinIreland

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