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Journal of Inherited Metabolic Disease

, Volume 36, Issue 1, pp 21–27 | Cite as

Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

  • K. P. Coss
  • P. P. Doran
  • C. Owoeye
  • M. B. Codd
  • N. Hamid
  • P. D. Mayne
  • E. Crushell
  • I. Knerr
  • A. A. Monavari
  • E. P. Treacy
Original Article

Abstract

Newborn screening for the inborn error of metabolism, classical galactosaemia prevents life-threatening complications in the neonatal period. It does not however influence the development of long-term complications and the complex pathophysiology of this rare disease remains poorly understood. The objective of this study was to report the development of a healthcare database (using Distiller Version 2.1) to review the epidemiology of classical galactosaemia in Ireland since initiation of newborn screening in 1972 and the long-term clinical outcomes of all patients attending the National Centre for Inherited Metabolic Disorders (NCIMD). Since 1982, the average live birth incidence rate of classical galactosaemia in the total Irish population was approximately 1:16,476 births. This reflects a high incidence in the Irish ‘Traveller’ population, with an estimated birth incidence of 1:33,917 in the non-Traveller Irish population. Despite early initiation of treatment (dietary galactose restriction), the long-term outcomes of classical galactosaemia in the Irish patient population are poor; 30.6 % of patients ≥6 yrs have IQs <70, 49.6 % of patients ≥2.5 yrs have speech or language impairments and 91.2 % of females ≥13 yrs suffer from hypergonadotrophic hypogonadism (HH) possibly leading to decreased fertility. These findings are consistent with the international experience. This emphasizes the requirement for continued clinical research in this complex disorder.

Keywords

Newborn Screening Language Disorder Hypergonadotropic Hypogonadism Classical Galactosaemia Birth Incidence 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgements

We would like to acknowledge the expert help of clinical Psychologists, Aoife Brinkley and Yvonne Rogers and clinical Dieticians, Una Hendroff and Anne Clark for these studies and Eileen O’Reilly for her expert assistance with the manuscript. The authors wish to thank the Children’s Fund for Health Ltd, Children’s University Hospital for a grant to assist with these studies.

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Copyright information

© SSIEM and Springer 2012

Authors and Affiliations

  • K. P. Coss
    • 1
  • P. P. Doran
    • 1
  • C. Owoeye
    • 2
  • M. B. Codd
    • 3
  • N. Hamid
    • 3
  • P. D. Mayne
    • 4
  • E. Crushell
    • 2
  • I. Knerr
    • 2
  • A. A. Monavari
    • 2
  • E. P. Treacy
    • 2
    • 5
  1. 1.Clinical Research Centre, Mater Misericordiae University HospitalUniversity College Dublin (UCD)DublinIreland
  2. 2.National Centre for Inherited Metabolic Disorders (NCIMD)Children’s University HospitalDublinIreland
  3. 3.School of Public Health, Physiotherapy and Population ScienceUniversity College Dublin (UCD)DublinIreland
  4. 4.National Newborn Screening LaboratoryChildren University HospitalDublin 1Ireland
  5. 5.Trinity CollegeDublinIreland

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