Advertisement

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

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.

Keywords

Hereditary metabolic diseases-adults Irish epidemiology Patient registries 

Notes

Acknowledgments

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

None.

References

  1. 1.
    Jimenez-Sanchez G, Childs B, Valle D (2008) Chapter 4. The effect of Mendelian disease on human health. In: Vallc D, Boaudet A, Vogelstein B et al (eds) OMMBID the metabolic and molecular bases of inherited disease. McGraw-Hill, New York. http://www.MMBIDOnline.com
  2. 2.
    Naughten ER, Kiely B, Saul I, Murphy D (1987) Phenylketonuria: outcome and problems in a ‘diet-for-life’ clinic. Eur J Pediatr 146(Suppl 1):A23–A24PubMedCrossRefGoogle Scholar
  3. 3.
    Geelhoed EA, Lewis B, Hounsome D, O’Leary P (2005) Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. J Paediatr Child Health 41(11):575–579PubMedCrossRefGoogle Scholar
  4. 4.
    Treacy EP (2008) Update, chapter 5, the treatment of genetic disease. In: Vallc D, Boaudet A, Vogelstein B et al (eds) OMMBID the metabolic and molecular bases of inherited disease. McGraw-Hill, New York. http://www.MMBIDOnline.com
  5. 5.
    Dietz HM (2010) New therapeutic approaches to Mendelian disorders. N Engl J Med 363(9):852–863PubMedCrossRefGoogle Scholar
  6. 6.
    Karnebeek CDM, Stockler S (2012) Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab 105(3):368–381PubMedCrossRefGoogle Scholar
  7. 7.
    EU (2009) Council Recommendation (EU) 2009/C 151/02 of 8 June 2009 on an action in the field of rare diseases. Official Journal of the European Union. http://eurlex.europa.eu
  8. 8.
    (2012) Orphanet report series—rare disease collection: prevalence of rare diseases—bibliographic data. Available at: http://www.orpha.net
  9. 9.
    Coss KP, Doran PP, Owoeye C et al (2013) Classical galactosaemia in Ireland: incidence, complications and outcomes of treatment. J Inherit Metab Dis 26(1):21–27CrossRefGoogle Scholar
  10. 10.
    Mayne PD A practical guide to newborn bloodspot screening in Ireland. http://www.hse.ie
  11. 11.
    Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Ayme S (2012) Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum Mutat 33(5):803–808PubMedCrossRefGoogle Scholar
  12. 12.
    Metabolic Pathways, Networks of Care, Hilary Burton, Public Health Genetics Unit (PGHU) (2005). http://www.phgfoundation.org
  13. 13.
    Del Toro-Riera M (2007) Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry. Rev Neurol 19(44 Suppl 1):S13–S17Google Scholar

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

Personalised recommendations